SNP Links for Protein (Select 556695393) - SNP

Links from Protein

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Select item 14883723951.

rs1488372395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:107746723 (GRCh38)
6:108067927 (GRCh37)
Canonical SPDI:: NC_000006.12:107746722:C:A
Gene:: SCML4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
HGVS:: NC_000006.12:g.107746723C>A, NC_000006.11:g.108067927C>A, NM_198081.5:c.453G>T, NM_198081.4:c.453G>T, NM_198081.3:c.453G>T, XM_011535703.3:c.366G>T, XM_011535703.2:c.366G>T, XM_011535703.1:c.366G>T, XM_011535704.3:c.366G>T, XM_011535704.2:c.366G>T, XM_011535704.1:c.366G>T, NM_001286408.2:c.279G>T, NM_001286408.1:c.279G>T, XM_011535706.2:c.279G>T, XM_011535706.1:c.279G>T, XM_047418597.1:c.573G>T, XM_047418598.1:c.612G>T, XM_047418595.1:c.612G>T, XM_047418596.1:c.612G>T

Select item 14882627772.

rs1488262777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:107749730 (GRCh38)
6:108070934 (GRCh37)
Canonical SPDI:: NC_000006.12:107749729:C:G
Gene:: SCML4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.107749730C>G, NC_000006.11:g.108070934C>G, NM_198081.5:c.240G>C, NM_198081.4:c.240G>C, NM_198081.3:c.240G>C, XM_011535703.3:c.153G>C, XM_011535703.2:c.153G>C, XM_011535703.1:c.153G>C, XM_011535704.3:c.153G>C, XM_011535704.2:c.153G>C, XM_011535704.1:c.153G>C, NM_001286408.2:c.66G>C, NM_001286408.1:c.66G>C, XM_011535706.2:c.66G>C, XM_011535706.1:c.66G>C, XM_047418597.1:c.360G>C, XM_047418598.1:c.334G>C, XM_047418595.1:c.334G>C, XM_047418596.1:c.334G>C, NP_932347.2:p.Gln80His, XP_011534005.1:p.Gln51His, XP_011534006.1:p.Gln51His, NP_001273337.1:p.Gln22His, XP_011534008.1:p.Gln22His, XP_047274553.1:p.Gln120His, XP_047274554.1:p.Gly112Arg, XP_047274551.1:p.Gly112Arg, XP_047274552.1:p.Gly112Arg

Select item 14821895393.

rs1482189539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:107746792 (GRCh38)
6:108067996 (GRCh37)
Canonical SPDI:: NC_000006.12:107746791:C:T
Gene:: SCML4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.107746792C>T, NC_000006.11:g.108067996C>T, NM_198081.5:c.384G>A, NM_198081.4:c.384G>A, NM_198081.3:c.384G>A, XM_011535703.3:c.297G>A, XM_011535703.2:c.297G>A, XM_011535703.1:c.297G>A, XM_011535704.3:c.297G>A, XM_011535704.2:c.297G>A, XM_011535704.1:c.297G>A, NM_001286408.2:c.210G>A, NM_001286408.1:c.210G>A, XM_011535706.2:c.210G>A, XM_011535706.1:c.210G>A, XM_047418597.1:c.504G>A, XM_047418598.1:c.543G>A, XM_047418595.1:c.543G>A, XM_047418596.1:c.543G>A

Select item 14783559554.

rs1478355955 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:107720952 (GRCh38)
6:108042156 (GRCh37)
Canonical SPDI:: NC_000006.12:107720951:C:A
Gene:: SCML4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.107720952C>A, NC_000006.11:g.108042156C>A, NM_198081.5:c.724G>T, NM_198081.4:c.724G>T, NM_198081.3:c.724G>T, XM_011535703.3:c.637G>T, XM_011535703.2:c.637G>T, XM_011535703.1:c.637G>T, XM_011535704.3:c.637G>T, XM_011535704.2:c.637G>T, XM_011535704.1:c.637G>T, XM_011535709.3:c.-3G>T, XM_011535709.2:c.-3G>T, XM_011535709.1:c.-3G>T, NM_001286408.2:c.550G>T, NM_001286408.1:c.550G>T, XM_011535706.2:c.550G>T, XM_011535706.1:c.550G>T, NM_001286409.2:c.-3G>T, NM_001286409.1:c.-3G>T, XM_047418597.1:c.844G>T, XM_047418598.1:c.883G>T, XM_047418595.1:c.883G>T, XM_047418596.1:c.883G>T, NP_932347.2:p.Gly242Cys, XP_011534005.1:p.Gly213Cys, XP_011534006.1:p.Gly213Cys, NP_001273337.1:p.Gly184Cys, XP_011534008.1:p.Gly184Cys, XP_047274553.1:p.Gly282Cys, XP_047274554.1:p.Gly295Cys, XP_047274551.1:p.Gly295Cys, XP_047274552.1:p.Gly295Cys

Select item 14776612485.

rs1477661248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:107749691 (GRCh38)
6:108070895 (GRCh37)
Canonical SPDI:: NC_000006.12:107749690:A:C
Gene:: SCML4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.107749691A>C, NC_000006.11:g.108070895A>C, NM_198081.5:c.279T>G, NM_198081.4:c.279T>G, NM_198081.3:c.279T>G, XM_011535703.3:c.192T>G, XM_011535703.2:c.192T>G, XM_011535703.1:c.192T>G, XM_011535704.3:c.192T>G, XM_011535704.2:c.192T>G, XM_011535704.1:c.192T>G, NM_001286408.2:c.105T>G, NM_001286408.1:c.105T>G, XM_011535706.2:c.105T>G, XM_011535706.1:c.105T>G, XM_047418597.1:c.399T>G, XM_047418598.1:c.373T>G, XM_047418595.1:c.373T>G, XM_047418596.1:c.373T>G, XP_047274554.1:p.Ser125Ala, XP_047274551.1:p.Ser125Ala, XP_047274552.1:p.Ser125Ala

Select item 14761601336.

rs1476160133 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:107720809 (GRCh38)
6:108042013 (GRCh37)
Canonical SPDI:: NC_000006.12:107720808:A:G
Gene:: SCML4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.107720809A>G, NC_000006.11:g.108042013A>G, NM_198081.5:c.867T>C, NM_198081.4:c.867T>C, NM_198081.3:c.867T>C, XM_011535703.3:c.780T>C, XM_011535703.2:c.780T>C, XM_011535703.1:c.780T>C, XM_011535704.3:c.780T>C, XM_011535704.2:c.780T>C, XM_011535704.1:c.780T>C, XM_011535709.3:c.141T>C, XM_011535709.2:c.141T>C, XM_011535709.1:c.141T>C, NM_001286408.2:c.693T>C, NM_001286408.1:c.693T>C, XM_011535706.2:c.693T>C, XM_011535706.1:c.693T>C, NM_001286409.2:c.141T>C, NM_001286409.1:c.141T>C, XM_047418597.1:c.987T>C, XM_047418598.1:c.1026T>C, XM_047418595.1:c.1026T>C, XM_047418596.1:c.1026T>C

Select item 14758345677.

rs1475834567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:107707932 (GRCh38)
6:108029136 (GRCh37)
Canonical SPDI:: NC_000006.12:107707931:C:T
Gene:: SCML4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.107707932C>T, NC_000006.11:g.108029136C>T, NM_198081.5:c.1053G>A, NM_198081.4:c.1053G>A, NM_198081.3:c.1053G>A, XM_011535703.3:c.966G>A, XM_011535703.2:c.966G>A, XM_011535703.1:c.966G>A, XM_011535704.3:c.966G>A, XM_011535704.2:c.966G>A, XM_011535704.1:c.966G>A, XM_011535709.3:c.327G>A, XM_011535709.2:c.327G>A, XM_011535709.1:c.327G>A, NM_001286408.2:c.879G>A, NM_001286408.1:c.879G>A, XM_011535706.2:c.879G>A, XM_011535706.1:c.879G>A, NM_001286409.2:c.327G>A, NM_001286409.1:c.327G>A, XM_047418597.1:c.1173G>A, XM_047418598.1:c.1212G>A, XM_047418595.1:c.1212G>A, XM_047418596.1:c.1212G>A

Select item 14749426348.

rs1474942634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:107707984 (GRCh38)
6:108029188 (GRCh37)
Canonical SPDI:: NC_000006.12:107707983:T:A,NC_000006.12:107707983:T:C
Gene:: SCML4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.107707984T>A, NC_000006.12:g.107707984T>C, NC_000006.11:g.108029188T>A, NC_000006.11:g.108029188T>C, NM_198081.5:c.1001A>T, NM_198081.5:c.1001A>G, NM_198081.4:c.1001A>T, NM_198081.4:c.1001A>G, NM_198081.3:c.1001A>T, NM_198081.3:c.1001A>G, XM_011535703.3:c.914A>T, XM_011535703.3:c.914A>G, XM_011535703.2:c.914A>T, XM_011535703.2:c.914A>G, XM_011535703.1:c.914A>T, XM_011535703.1:c.914A>G, XM_011535704.3:c.914A>T, XM_011535704.3:c.914A>G, XM_011535704.2:c.914A>T, XM_011535704.2:c.914A>G, XM_011535704.1:c.914A>T, XM_011535704.1:c.914A>G, XM_011535709.3:c.275A>T, XM_011535709.3:c.275A>G, XM_011535709.2:c.275A>T, XM_011535709.2:c.275A>G, XM_011535709.1:c.275A>T, XM_011535709.1:c.275A>G, NM_001286408.2:c.827A>T, NM_001286408.2:c.827A>G, NM_001286408.1:c.827A>T, NM_001286408.1:c.827A>G, XM_011535706.2:c.827A>T, XM_011535706.2:c.827A>G, XM_011535706.1:c.827A>T, XM_011535706.1:c.827A>G, NM_001286409.2:c.275A>T, NM_001286409.2:c.275A>G, NM_001286409.1:c.275A>T, NM_001286409.1:c.275A>G, XM_047418597.1:c.1121A>T, XM_047418597.1:c.1121A>G, XM_047418598.1:c.1160A>T, XM_047418598.1:c.1160A>G, XM_047418595.1:c.1160A>T, XM_047418595.1:c.1160A>G, XM_047418596.1:c.1160A>T, XM_047418596.1:c.1160A>G, NP_932347.2:p.Asp334Val, NP_932347.2:p.Asp334Gly, XP_011534005.1:p.Asp305Val, XP_011534005.1:p.Asp305Gly, XP_011534006.1:p.Asp305Val, XP_011534006.1:p.Asp305Gly, XP_011534011.1:p.Asp92Val, XP_011534011.1:p.Asp92Gly, NP_001273337.1:p.Asp276Val, NP_001273337.1:p.Asp276Gly, XP_011534008.1:p.Asp276Val, XP_011534008.1:p.Asp276Gly, NP_001273338.1:p.Asp92Val, NP_001273338.1:p.Asp92Gly, XP_047274553.1:p.Asp374Val, XP_047274553.1:p.Asp374Gly, XP_047274554.1:p.Asp387Val, XP_047274554.1:p.Asp387Gly, XP_047274551.1:p.Asp387Val, XP_047274551.1:p.Asp387Gly, XP_047274552.1:p.Asp387Val, XP_047274552.1:p.Asp387Gly

Select item 14695001669.

rs1469500166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:107720954 (GRCh38)
6:108042158 (GRCh37)
Canonical SPDI:: NC_000006.12:107720953:A:T
Gene:: SCML4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.107720954A>T, NC_000006.11:g.108042158A>T, NM_198081.5:c.722T>A, NM_198081.4:c.722T>A, NM_198081.3:c.722T>A, XM_011535703.3:c.635T>A, XM_011535703.2:c.635T>A, XM_011535703.1:c.635T>A, XM_011535704.3:c.635T>A, XM_011535704.2:c.635T>A, XM_011535704.1:c.635T>A, XM_011535709.3:c.-5T>A, XM_011535709.2:c.-5T>A, XM_011535709.1:c.-5T>A, NM_001286408.2:c.548T>A, NM_001286408.1:c.548T>A, XM_011535706.2:c.548T>A, XM_011535706.1:c.548T>A, NM_001286409.2:c.-5T>A, NM_001286409.1:c.-5T>A, XM_047418597.1:c.842T>A, XM_047418598.1:c.881T>A, XM_047418595.1:c.881T>A, XM_047418596.1:c.881T>A, NP_932347.2:p.Val241Glu, XP_011534005.1:p.Val212Glu, XP_011534006.1:p.Val212Glu, NP_001273337.1:p.Val183Glu, XP_011534008.1:p.Val183Glu, XP_047274553.1:p.Val281Glu, XP_047274554.1:p.Val294Glu, XP_047274551.1:p.Val294Glu, XP_047274552.1:p.Val294Glu

Select item 146938840410.

rs1469388404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:107705247 (GRCh38)
6:108026451 (GRCh37)
Canonical SPDI:: NC_000006.12:107705246:G:T
Gene:: SCML4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.107705247G>T, NC_000006.11:g.108026451G>T, NM_198081.5:c.1198C>A, NM_198081.4:c.1198C>A, NM_198081.3:c.1198C>A, XM_011535703.3:c.1111C>A, XM_011535703.2:c.1111C>A, XM_011535703.1:c.1111C>A, XM_011535704.3:c.1111C>A, XM_011535704.2:c.1111C>A, XM_011535704.1:c.1111C>A, XM_011535709.3:c.472C>A, XM_011535709.2:c.472C>A, XM_011535709.1:c.472C>A, NM_001286408.2:c.1024C>A, NM_001286408.1:c.1024C>A, XM_011535706.2:c.1024C>A, XM_011535706.1:c.1024C>A, NM_001286409.2:c.472C>A, NM_001286409.1:c.472C>A, XM_047418597.1:c.1318C>A, XM_047418598.1:c.1357C>A, XM_047418595.1:c.1357C>A, XM_047418596.1:c.1357C>A, NP_932347.2:p.Leu400Met, XP_011534005.1:p.Leu371Met, XP_011534006.1:p.Leu371Met, XP_011534011.1:p.Leu158Met, NP_001273337.1:p.Leu342Met, XP_011534008.1:p.Leu342Met, NP_001273338.1:p.Leu158Met, XP_047274553.1:p.Leu440Met, XP_047274554.1:p.Leu453Met, XP_047274551.1:p.Leu453Met, XP_047274552.1:p.Leu453Met

Select item 146777512911.

rs1467775129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:107720730 (GRCh38)
6:108041934 (GRCh37)
Canonical SPDI:: NC_000006.12:107720729:T:C
Gene:: SCML4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.107720730T>C, NC_000006.11:g.108041934T>C, NM_198081.5:c.946A>G, NM_198081.4:c.946A>G, NM_198081.3:c.946A>G, XM_011535703.3:c.859A>G, XM_011535703.2:c.859A>G, XM_011535703.1:c.859A>G, XM_011535704.3:c.859A>G, XM_011535704.2:c.859A>G, XM_011535704.1:c.859A>G, XM_011535709.3:c.220A>G, XM_011535709.2:c.220A>G, XM_011535709.1:c.220A>G, NM_001286408.2:c.772A>G, NM_001286408.1:c.772A>G, XM_011535706.2:c.772A>G, XM_011535706.1:c.772A>G, NM_001286409.2:c.220A>G, NM_001286409.1:c.220A>G, XM_047418597.1:c.1066A>G, XM_047418598.1:c.1105A>G, XM_047418595.1:c.1105A>G, XM_047418596.1:c.1105A>G, NP_932347.2:p.Thr316Ala, XP_011534005.1:p.Thr287Ala, XP_011534006.1:p.Thr287Ala, XP_011534011.1:p.Thr74Ala, NP_001273337.1:p.Thr258Ala, XP_011534008.1:p.Thr258Ala, NP_001273338.1:p.Thr74Ala, XP_047274553.1:p.Thr356Ala, XP_047274554.1:p.Thr369Ala, XP_047274551.1:p.Thr369Ala, XP_047274552.1:p.Thr369Ala

Select item 146546486312.

rs1465464863 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:107745060 (GRCh38)
6:108066264 (GRCh37)
Canonical SPDI:: NC_000006.12:107745059:T:C
Gene:: SCML4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.107745060T>C, NC_000006.11:g.108066264T>C, NM_198081.5:c.571A>G, NM_198081.4:c.571A>G, NM_198081.3:c.571A>G, XM_011535703.3:c.484A>G, XM_011535703.2:c.484A>G, XM_011535703.1:c.484A>G, XM_011535704.3:c.484A>G, XM_011535704.2:c.484A>G, XM_011535704.1:c.484A>G, NM_001286408.2:c.397A>G, NM_001286408.1:c.397A>G, XM_011535706.2:c.397A>G, XM_011535706.1:c.397A>G, XM_047418597.1:c.691A>G, XM_047418598.1:c.730A>G, XM_047418595.1:c.730A>G, XM_047418596.1:c.730A>G, NP_932347.2:p.Lys191Glu, XP_011534005.1:p.Lys162Glu, XP_011534006.1:p.Lys162Glu, NP_001273337.1:p.Lys133Glu, XP_011534008.1:p.Lys133Glu, XP_047274553.1:p.Lys231Glu, XP_047274554.1:p.Lys244Glu, XP_047274551.1:p.Lys244Glu, XP_047274552.1:p.Lys244Glu

Select item 146259790013.

rs1462597900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:107707982 (GRCh38)
6:108029186 (GRCh37)
Canonical SPDI:: NC_000006.12:107707981:C:G
Gene:: SCML4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.107707982C>G, NC_000006.11:g.108029186C>G, NM_198081.5:c.1003G>C, NM_198081.4:c.1003G>C, NM_198081.3:c.1003G>C, XM_011535703.3:c.916G>C, XM_011535703.2:c.916G>C, XM_011535703.1:c.916G>C, XM_011535704.3:c.916G>C, XM_011535704.2:c.916G>C, XM_011535704.1:c.916G>C, XM_011535709.3:c.277G>C, XM_011535709.2:c.277G>C, XM_011535709.1:c.277G>C, NM_001286408.2:c.829G>C, NM_001286408.1:c.829G>C, XM_011535706.2:c.829G>C, XM_011535706.1:c.829G>C, NM_001286409.2:c.277G>C, NM_001286409.1:c.277G>C, XM_047418597.1:c.1123G>C, XM_047418598.1:c.1162G>C, XM_047418595.1:c.1162G>C, XM_047418596.1:c.1162G>C, NP_932347.2:p.Ala335Pro, XP_011534005.1:p.Ala306Pro, XP_011534006.1:p.Ala306Pro, XP_011534011.1:p.Ala93Pro, NP_001273337.1:p.Ala277Pro, XP_011534008.1:p.Ala277Pro, NP_001273338.1:p.Ala93Pro, XP_047274553.1:p.Ala375Pro, XP_047274554.1:p.Ala388Pro, XP_047274551.1:p.Ala388Pro, XP_047274552.1:p.Ala388Pro

Select item 146227115514.

rs1462271155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:107745113 (GRCh38)
6:108066317 (GRCh37)
Canonical SPDI:: NC_000006.12:107745112:A:C,NC_000006.12:107745112:A:G
Gene:: SCML4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
C=0.002183/4 (Korea1K)
HGVS:: NC_000006.12:g.107745113A>C, NC_000006.12:g.107745113A>G, NC_000006.11:g.108066317A>C, NC_000006.11:g.108066317A>G, NM_198081.5:c.518T>G, NM_198081.5:c.518T>C, NM_198081.4:c.518T>G, NM_198081.4:c.518T>C, NM_198081.3:c.518T>G, NM_198081.3:c.518T>C, XM_011535703.3:c.431T>G, XM_011535703.3:c.431T>C, XM_011535703.2:c.431T>G, XM_011535703.2:c.431T>C, XM_011535703.1:c.431T>G, XM_011535703.1:c.431T>C, XM_011535704.3:c.431T>G, XM_011535704.3:c.431T>C, XM_011535704.2:c.431T>G, XM_011535704.2:c.431T>C, XM_011535704.1:c.431T>G, XM_011535704.1:c.431T>C, NM_001286408.2:c.344T>G, NM_001286408.2:c.344T>C, NM_001286408.1:c.344T>G, NM_001286408.1:c.344T>C, XM_011535706.2:c.344T>G, XM_011535706.2:c.344T>C, XM_011535706.1:c.344T>G, XM_011535706.1:c.344T>C, XM_047418597.1:c.638T>G, XM_047418597.1:c.638T>C, XM_047418598.1:c.677T>G, XM_047418598.1:c.677T>C, XM_047418595.1:c.677T>G, XM_047418595.1:c.677T>C, XM_047418596.1:c.677T>G, XM_047418596.1:c.677T>C, NP_932347.2:p.Leu173Arg, NP_932347.2:p.Leu173Pro, XP_011534005.1:p.Leu144Arg, XP_011534005.1:p.Leu144Pro, XP_011534006.1:p.Leu144Arg, XP_011534006.1:p.Leu144Pro, NP_001273337.1:p.Leu115Arg, NP_001273337.1:p.Leu115Pro, XP_011534008.1:p.Leu115Arg, XP_011534008.1:p.Leu115Pro, XP_047274553.1:p.Leu213Arg, XP_047274553.1:p.Leu213Pro, XP_047274554.1:p.Leu226Arg, XP_047274554.1:p.Leu226Pro, XP_047274551.1:p.Leu226Arg, XP_047274551.1:p.Leu226Pro, XP_047274552.1:p.Leu226Arg, XP_047274552.1:p.Leu226Pro

Select item 146223623215.

rs1462236232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:107707876 (GRCh38)
6:108029080 (GRCh37)
Canonical SPDI:: NC_000006.12:107707875:A:C
Gene:: SCML4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.107707876A>C, NC_000006.11:g.108029080A>C, NM_198081.5:c.1109T>G, NM_198081.4:c.1109T>G, NM_198081.3:c.1109T>G, XM_011535703.3:c.1022T>G, XM_011535703.2:c.1022T>G, XM_011535703.1:c.1022T>G, XM_011535704.3:c.1022T>G, XM_011535704.2:c.1022T>G, XM_011535704.1:c.1022T>G, XM_011535709.3:c.383T>G, XM_011535709.2:c.383T>G, XM_011535709.1:c.383T>G, NM_001286408.2:c.935T>G, NM_001286408.1:c.935T>G, XM_011535706.2:c.935T>G, XM_011535706.1:c.935T>G, NM_001286409.2:c.383T>G, NM_001286409.1:c.383T>G, XM_047418597.1:c.1229T>G, XM_047418598.1:c.1268T>G, XM_047418595.1:c.1268T>G, XM_047418596.1:c.1268T>G, NP_932347.2:p.Phe370Cys, XP_011534005.1:p.Phe341Cys, XP_011534006.1:p.Phe341Cys, XP_011534011.1:p.Phe128Cys, NP_001273337.1:p.Phe312Cys, XP_011534008.1:p.Phe312Cys, NP_001273338.1:p.Phe128Cys, XP_047274553.1:p.Phe410Cys, XP_047274554.1:p.Phe423Cys, XP_047274551.1:p.Phe423Cys, XP_047274552.1:p.Phe423Cys

Select item 145867566916.

rs1458675669 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:107720835 (GRCh38)
6:108042039 (GRCh37)
Canonical SPDI:: NC_000006.12:107720834:C:A,NC_000006.12:107720834:C:T
Gene:: SCML4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.107720835C>A, NC_000006.12:g.107720835C>T, NC_000006.11:g.108042039C>A, NC_000006.11:g.108042039C>T, NM_198081.5:c.841G>T, NM_198081.5:c.841G>A, NM_198081.4:c.841G>T, NM_198081.4:c.841G>A, NM_198081.3:c.841G>T, NM_198081.3:c.841G>A, XM_011535703.3:c.754G>T, XM_011535703.3:c.754G>A, XM_011535703.2:c.754G>T, XM_011535703.2:c.754G>A, XM_011535703.1:c.754G>T, XM_011535703.1:c.754G>A, XM_011535704.3:c.754G>T, XM_011535704.3:c.754G>A, XM_011535704.2:c.754G>T, XM_011535704.2:c.754G>A, XM_011535704.1:c.754G>T, XM_011535704.1:c.754G>A, XM_011535709.3:c.115G>T, XM_011535709.3:c.115G>A, XM_011535709.2:c.115G>T, XM_011535709.2:c.115G>A, XM_011535709.1:c.115G>T, XM_011535709.1:c.115G>A, NM_001286408.2:c.667G>T, NM_001286408.2:c.667G>A, NM_001286408.1:c.667G>T, NM_001286408.1:c.667G>A, XM_011535706.2:c.667G>T, XM_011535706.2:c.667G>A, XM_011535706.1:c.667G>T, XM_011535706.1:c.667G>A, NM_001286409.2:c.115G>T, NM_001286409.2:c.115G>A, NM_001286409.1:c.115G>T, NM_001286409.1:c.115G>A, XM_047418597.1:c.961G>T, XM_047418597.1:c.961G>A, XM_047418598.1:c.1000G>T, XM_047418598.1:c.1000G>A, XM_047418595.1:c.1000G>T, XM_047418595.1:c.1000G>A, XM_047418596.1:c.1000G>T, XM_047418596.1:c.1000G>A, NP_932347.2:p.Gly281Cys, NP_932347.2:p.Gly281Ser, XP_011534005.1:p.Gly252Cys, XP_011534005.1:p.Gly252Ser, XP_011534006.1:p.Gly252Cys, XP_011534006.1:p.Gly252Ser, XP_011534011.1:p.Gly39Cys, XP_011534011.1:p.Gly39Ser, NP_001273337.1:p.Gly223Cys, NP_001273337.1:p.Gly223Ser, XP_011534008.1:p.Gly223Cys, XP_011534008.1:p.Gly223Ser, NP_001273338.1:p.Gly39Cys, NP_001273338.1:p.Gly39Ser, XP_047274553.1:p.Gly321Cys, XP_047274553.1:p.Gly321Ser, XP_047274554.1:p.Gly334Cys, XP_047274554.1:p.Gly334Ser, XP_047274551.1:p.Gly334Cys, XP_047274551.1:p.Gly334Ser, XP_047274552.1:p.Gly334Cys, XP_047274552.1:p.Gly334Ser

Select item 145836699617.

rs1458366996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:107746848 (GRCh38)
6:108068052 (GRCh37)
Canonical SPDI:: NC_000006.12:107746847:G:C
Gene:: SCML4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.107746848G>C, NC_000006.11:g.108068052G>C, NM_198081.5:c.328C>G, NM_198081.4:c.328C>G, NM_198081.3:c.328C>G, XM_011535703.3:c.241C>G, XM_011535703.2:c.241C>G, XM_011535703.1:c.241C>G, XM_011535704.3:c.241C>G, XM_011535704.2:c.241C>G, XM_011535704.1:c.241C>G, NM_001286408.2:c.154C>G, NM_001286408.1:c.154C>G, XM_011535706.2:c.154C>G, XM_011535706.1:c.154C>G, XM_047418597.1:c.448C>G, XM_047418598.1:c.487C>G, XM_047418595.1:c.487C>G, XM_047418596.1:c.487C>G, NP_932347.2:p.Leu110Val, XP_011534005.1:p.Leu81Val, XP_011534006.1:p.Leu81Val, NP_001273337.1:p.Leu52Val, XP_011534008.1:p.Leu52Val, XP_047274553.1:p.Leu150Val, XP_047274554.1:p.Leu163Val, XP_047274551.1:p.Leu163Val, XP_047274552.1:p.Leu163Val

Select item 145705894618.

rs1457058946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:107705238 (GRCh38)
6:108026442 (GRCh37)
Canonical SPDI:: NC_000006.12:107705237:A:G
Gene:: SCML4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.107705238A>G, NC_000006.11:g.108026442A>G, NM_198081.5:c.1207T>C, NM_198081.4:c.1207T>C, NM_198081.3:c.1207T>C, XM_011535703.3:c.1120T>C, XM_011535703.2:c.1120T>C, XM_011535703.1:c.1120T>C, XM_011535704.3:c.1120T>C, XM_011535704.2:c.1120T>C, XM_011535704.1:c.1120T>C, XM_011535709.3:c.481T>C, XM_011535709.2:c.481T>C, XM_011535709.1:c.481T>C, NM_001286408.2:c.1033T>C, NM_001286408.1:c.1033T>C, XM_011535706.2:c.1033T>C, XM_011535706.1:c.1033T>C, NM_001286409.2:c.481T>C, NM_001286409.1:c.481T>C, XM_047418597.1:c.1327T>C, XM_047418598.1:c.1366T>C, XM_047418595.1:c.1366T>C, XM_047418596.1:c.1366T>C, NP_932347.2:p.Cys403Arg, XP_011534005.1:p.Cys374Arg, XP_011534006.1:p.Cys374Arg, XP_011534011.1:p.Cys161Arg, NP_001273337.1:p.Cys345Arg, XP_011534008.1:p.Cys345Arg, NP_001273338.1:p.Cys161Arg, XP_047274553.1:p.Cys443Arg, XP_047274554.1:p.Cys456Arg, XP_047274551.1:p.Cys456Arg, XP_047274552.1:p.Cys456Arg

Select item 145670532219.

rs1456705322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:107720727 (GRCh38)
6:108041931 (GRCh37)
Canonical SPDI:: NC_000006.12:107720726:T:C
Gene:: SCML4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.107720727T>C, NC_000006.11:g.108041931T>C, NM_198081.5:c.949A>G, NM_198081.4:c.949A>G, NM_198081.3:c.949A>G, XM_011535703.3:c.862A>G, XM_011535703.2:c.862A>G, XM_011535703.1:c.862A>G, XM_011535704.3:c.862A>G, XM_011535704.2:c.862A>G, XM_011535704.1:c.862A>G, XM_011535709.3:c.223A>G, XM_011535709.2:c.223A>G, XM_011535709.1:c.223A>G, NM_001286408.2:c.775A>G, NM_001286408.1:c.775A>G, XM_011535706.2:c.775A>G, XM_011535706.1:c.775A>G, NM_001286409.2:c.223A>G, NM_001286409.1:c.223A>G, XM_047418597.1:c.1069A>G, XM_047418598.1:c.1108A>G, XM_047418595.1:c.1108A>G, XM_047418596.1:c.1108A>G, NP_932347.2:p.Thr317Ala, XP_011534005.1:p.Thr288Ala, XP_011534006.1:p.Thr288Ala, XP_011534011.1:p.Thr75Ala, NP_001273337.1:p.Thr259Ala, XP_011534008.1:p.Thr259Ala, NP_001273338.1:p.Thr75Ala, XP_047274553.1:p.Thr357Ala, XP_047274554.1:p.Thr370Ala, XP_047274551.1:p.Thr370Ala, XP_047274552.1:p.Thr370Ala

Select item 145573794120.

rs1455737941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:107707943 (GRCh38)
6:108029147 (GRCh37)
Canonical SPDI:: NC_000006.12:107707942:C:T
Gene:: SCML4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.107707943C>T, NC_000006.11:g.108029147C>T, NM_198081.5:c.1042G>A, NM_198081.4:c.1042G>A, NM_198081.3:c.1042G>A, XM_011535703.3:c.955G>A, XM_011535703.2:c.955G>A, XM_011535703.1:c.955G>A, XM_011535704.3:c.955G>A, XM_011535704.2:c.955G>A, XM_011535704.1:c.955G>A, XM_011535709.3:c.316G>A, XM_011535709.2:c.316G>A, XM_011535709.1:c.316G>A, NM_001286408.2:c.868G>A, NM_001286408.1:c.868G>A, XM_011535706.2:c.868G>A, XM_011535706.1:c.868G>A, NM_001286409.2:c.316G>A, NM_001286409.1:c.316G>A, XM_047418597.1:c.1162G>A, XM_047418598.1:c.1201G>A, XM_047418595.1:c.1201G>A, XM_047418596.1:c.1201G>A, NP_932347.2:p.Val348Met, XP_011534005.1:p.Val319Met, XP_011534006.1:p.Val319Met, XP_011534011.1:p.Val106Met, NP_001273337.1:p.Val290Met, XP_011534008.1:p.Val290Met, NP_001273338.1:p.Val106Met, XP_047274553.1:p.Val388Met, XP_047274554.1:p.Val401Met, XP_047274551.1:p.Val401Met, XP_047274552.1:p.Val401Met

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