SNP Links for Protein (Select 999809125) - SNP

Links from Protein

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Select item 14829031301.

rs1482903130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:44133810 (GRCh38)
21:45553692 (GRCh37)
Canonical SPDI:: NC_000021.9:44133809:T:G
Gene:: GATD3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44133810T>G, NC_000021.8:g.45553692T>G, NG_021281.3:g.5198T>G, NM_004649.8:c.113T>G, NM_004649.7:c.113T>G, NM_004649.6:c.113T>G, NM_198155.5:c.113T>G, NM_198155.4:c.113T>G, NM_198155.3:c.113T>G, NR_135220.2:n.128T>G, NR_135220.1:n.199T>G, NM_001320384.2:c.113T>G, NM_001320384.1:c.113T>G, NM_001320383.2:c.113T>G, NM_001320383.1:c.113T>G, NP_004640.4:p.Val38Gly, NP_937798.4:p.Val38Gly, NP_001307313.1:p.Val38Gly, NP_001307312.1:p.Val38Gly

Select item 14824878842.

rs1482487884 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 21:44133761 (GRCh38)
21:45553644 (GRCh37)
Canonical SPDI:: NC_000021.9:44133761:CCCCC:CCCCCC
Gene:: GATD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,frameshift_variant
HGVS:: NC_000021.9:g.44133766dup, NC_000021.8:g.45553648dup, NG_021281.3:g.5154dup, NM_004649.8:c.69dup, NM_004649.7:c.69dup, NM_004649.6:c.69dup, NM_198155.5:c.69dup, NM_198155.4:c.69dup, NM_198155.3:c.69dup, NR_135220.2:n.84dup, NR_135220.1:n.155dup, NM_001320384.2:c.69dup, NM_001320384.1:c.69dup, NM_001320383.2:c.69dup, NM_001320383.1:c.69dup, NP_004640.4:p.Gly24fs, NP_937798.4:p.Gly24fs, NP_001307313.1:p.Gly24fs, NP_001307312.1:p.Gly24fs

Select item 14824567013.

rs1482456701 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 21:44137178 (GRCh38)
21:45557061 (GRCh37)
Canonical SPDI:: NC_000021.9:44137178::C
Gene:: GATD3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44137178_44137179insC, NC_000021.8:g.45557060_45557061insC, NG_021281.3:g.8566_8567insC, NM_004649.8:c.310_311insC, NM_004649.7:c.310_311insC, NM_004649.6:c.310_311insC, NM_198155.5:c.310_311insC, NM_198155.4:c.310_311insC, NM_198155.3:c.310_311insC, NR_135220.2:n.272_273insC, NR_135220.1:n.343_344insC, NM_001320384.2:c.310_311insC, NM_001320384.1:c.310_311insC, NM_001320383.2:c.310_311insC, NM_001320383.1:c.310_311insC, XM_017028479.2:c.52_53insC, XM_017028479.1:c.52_53insC, NP_004640.4:p.Asn104fs, NP_937798.4:p.Asn104fs, NP_001307313.1:p.Asn104fs, NP_001307312.1:p.Asn104fs, XP_016883968.1:p.Asn18fs

Select item 14810442574.

rs1481044257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44133815 (GRCh38)
21:45553697 (GRCh37)
Canonical SPDI:: NC_000021.9:44133814:C:T
Gene:: GATD3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000021.9:g.44133815C>T, NC_000021.8:g.45553697C>T, NG_021281.3:g.5203C>T, NM_004649.8:c.118C>T, NM_004649.7:c.118C>T, NM_004649.6:c.118C>T, NM_198155.5:c.118C>T, NM_198155.4:c.118C>T, NM_198155.3:c.118C>T, NR_135220.2:n.133C>T, NR_135220.1:n.204C>T, NM_001320384.2:c.118C>T, NM_001320384.1:c.118C>T, NM_001320383.2:c.118C>T, NM_001320383.1:c.118C>T, NP_004640.4:p.Arg40Cys, NP_937798.4:p.Arg40Cys, NP_001307313.1:p.Arg40Cys, NP_001307312.1:p.Arg40Cys

Select item 14716486285.

rs1471648628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:44144946 (GRCh38)
21:45564828 (GRCh37)
Canonical SPDI:: NC_000021.9:44144945:G:T
Gene:: GATD3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.44144946G>T, NC_000021.8:g.45564828G>T, NG_021281.3:g.16334G>T, NM_004649.8:c.804G>T, NM_004649.7:c.804G>T, NM_004649.6:c.804G>T, NM_198155.5:c.711G>T, NM_198155.4:c.711G>T, NM_198155.3:c.711G>T, NR_135220.2:n.766G>T, NR_135220.1:n.837G>T, XM_017028479.2:c.546G>T, XM_017028479.1:c.546G>T, NP_004640.4:p.Lys268Asn, NP_937798.4:p.Lys237Asn, XP_016883968.1:p.Lys182Asn

Select item 14706461906.

rs1470646190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44133770 (GRCh38)
21:45553652 (GRCh37)
Canonical SPDI:: NC_000021.9:44133769:G:A
Gene:: GATD3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00003/1 (ALFA)
HGVS:: NC_000021.9:g.44133770G>A, NC_000021.8:g.45553652G>A, NG_021281.3:g.5158G>A, NM_004649.8:c.73G>A, NM_004649.7:c.73G>A, NM_004649.6:c.73G>A, NM_198155.5:c.73G>A, NM_198155.4:c.73G>A, NM_198155.3:c.73G>A, NR_135220.2:n.88G>A, NR_135220.1:n.159G>A, NM_001320384.2:c.73G>A, NM_001320384.1:c.73G>A, NM_001320383.2:c.73G>A, NM_001320383.1:c.73G>A, NP_004640.4:p.Gly25Ser, NP_937798.4:p.Gly25Ser, NP_001307313.1:p.Gly25Ser, NP_001307312.1:p.Gly25Ser

Select item 14695082137.

rs1469508213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44144914 (GRCh38)
21:45564796 (GRCh37)
Canonical SPDI:: NC_000021.9:44144913:A:G
Gene:: GATD3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44144914A>G, NC_000021.8:g.45564796A>G, NG_021281.3:g.16302A>G, NM_004649.8:c.772A>G, NM_004649.7:c.772A>G, NM_004649.6:c.772A>G, NM_198155.5:c.679A>G, NM_198155.4:c.679A>G, NM_198155.3:c.679A>G, NR_135220.2:n.734A>G, NR_135220.1:n.805A>G, XM_017028479.2:c.514A>G, XM_017028479.1:c.514A>G, NP_004640.4:p.Met258Val, NP_937798.4:p.Met227Val, XP_016883968.1:p.Met172Val

Select item 14467163228.

rs1446716322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44133725 (GRCh38)
21:45553607 (GRCh37)
Canonical SPDI:: NC_000021.9:44133724:T:C
Gene:: GATD3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
HGVS:: NC_000021.9:g.44133725T>C, NC_000021.8:g.45553607T>C, NG_021281.3:g.5113T>C, NM_004649.8:c.28T>C, NM_004649.7:c.28T>C, NM_004649.6:c.28T>C, NM_198155.5:c.28T>C, NM_198155.4:c.28T>C, NM_198155.3:c.28T>C, NR_135220.2:n.43T>C, NR_135220.1:n.114T>C, NM_001320384.2:c.28T>C, NM_001320384.1:c.28T>C, NM_001320383.2:c.28T>C, NM_001320383.1:c.28T>C, NP_004640.4:p.Ser10Pro, NP_937798.4:p.Ser10Pro, NP_001307313.1:p.Ser10Pro, NP_001307312.1:p.Ser10Pro

Select item 14435237949.

rs1443523794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44133718 (GRCh38)
21:45553600 (GRCh37)
Canonical SPDI:: NC_000021.9:44133717:G:A
Gene:: GATD3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.44133718G>A, NC_000021.8:g.45553600G>A, NG_021281.3:g.5106G>A, NM_004649.8:c.21G>A, NM_004649.7:c.21G>A, NM_004649.6:c.21G>A, NM_198155.5:c.21G>A, NM_198155.4:c.21G>A, NM_198155.3:c.21G>A, NR_135220.2:n.36G>A, NR_135220.1:n.107G>A, NM_001320384.2:c.21G>A, NM_001320384.1:c.21G>A, NM_001320383.2:c.21G>A, NM_001320383.1:c.21G>A

Select item 143998335010.

rs1439983350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44143250 (GRCh38)
21:45563132 (GRCh37)
Canonical SPDI:: NC_000021.9:44143249:C:T
Gene:: GATD3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44143250C>T, NC_000021.8:g.45563132C>T, NG_021281.3:g.14638C>T, NM_004649.8:c.567C>T, NM_004649.7:c.567C>T, NM_004649.6:c.567C>T, NM_198155.5:c.474C>T, NM_198155.4:c.474C>T, NM_198155.3:c.474C>T, NR_135220.2:n.529C>T, NR_135220.1:n.600C>T, XM_017028479.2:c.309C>T, XM_017028479.1:c.309C>T

Select item 143720813511.

rs1437208135 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:44137286 (GRCh38)
21:45557168 (GRCh37)
Canonical SPDI:: NC_000021.9:44137285:G:A,NC_000021.9:44137285:G:C
Gene:: GATD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000021.9:g.44137286G>A, NC_000021.9:g.44137286G>C, NC_000021.8:g.45557168G>A, NC_000021.8:g.45557168G>C, NG_021281.3:g.8674G>A, NG_021281.3:g.8674G>C, NM_004649.8:c.418G>A, NM_004649.8:c.418G>C, NM_004649.7:c.418G>A, NM_004649.7:c.418G>C, NM_004649.6:c.418G>A, NM_004649.6:c.418G>C, NM_198155.5:c.418G>A, NM_198155.5:c.418G>C, NM_198155.4:c.418G>A, NM_198155.4:c.418G>C, NM_198155.3:c.418G>A, NM_198155.3:c.418G>C, NR_135220.2:n.380G>A, NR_135220.2:n.380G>C, NR_135220.1:n.451G>A, NR_135220.1:n.451G>C, NM_001320384.2:c.418G>A, NM_001320384.2:c.418G>C, NM_001320384.1:c.418G>A, NM_001320384.1:c.418G>C, NM_001320383.2:c.418G>A, NM_001320383.2:c.418G>C, NM_001320383.1:c.418G>A, NM_001320383.1:c.418G>C, XM_017028479.2:c.160G>A, XM_017028479.2:c.160G>C, XM_017028479.1:c.160G>A, XM_017028479.1:c.160G>C, NP_004640.4:p.Ala140Thr, NP_004640.4:p.Ala140Pro, NP_937798.4:p.Ala140Thr, NP_937798.4:p.Ala140Pro, NP_001307313.1:p.Ala140Thr, NP_001307313.1:p.Ala140Pro, NP_001307312.1:p.Ala140Thr, NP_001307312.1:p.Ala140Pro, XP_016883968.1:p.Ala54Thr, XP_016883968.1:p.Ala54Pro

Select item 143631777812.

rs1436317778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44143211 (GRCh38)
21:45563093 (GRCh37)
Canonical SPDI:: NC_000021.9:44143210:C:T
Gene:: GATD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44143211C>T, NC_000021.8:g.45563093C>T, NG_021281.3:g.14599C>T, NM_004649.8:c.528C>T, NM_004649.7:c.528C>T, NM_004649.6:c.528C>T, NM_198155.5:c.435C>T, NM_198155.4:c.435C>T, NM_198155.3:c.435C>T, NR_135220.2:n.490C>T, NR_135220.1:n.561C>T, XM_017028479.2:c.270C>T, XM_017028479.1:c.270C>T

Select item 143262670513.

rs1432626705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44136094 (GRCh38)
21:45555976 (GRCh37)
Canonical SPDI:: NC_000021.9:44136093:G:A
Gene:: GATD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44136094G>A, NC_000021.8:g.45555976G>A, NG_021281.3:g.7482G>A, NM_004649.8:c.229G>A, NM_004649.7:c.229G>A, NM_004649.6:c.229G>A, NM_198155.5:c.229G>A, NM_198155.4:c.229G>A, NM_198155.3:c.229G>A, NR_135220.2:n.191G>A, NR_135220.1:n.262G>A, NM_001320384.2:c.229G>A, NM_001320384.1:c.229G>A, NM_001320383.2:c.229G>A, NM_001320383.1:c.229G>A, XM_017028479.2:c.-30G>A, XM_017028479.1:c.-30G>A, NP_004640.4:p.Val77Ile, NP_937798.4:p.Val77Ile, NP_001307313.1:p.Val77Ile, NP_001307312.1:p.Val77Ile

Select item 143097823714.

rs1430978237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44140323 (GRCh38)
21:45560205 (GRCh37)
Canonical SPDI:: NC_000021.9:44140322:C:G
Gene:: GATD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44140323C>G, NC_000021.8:g.45560205C>G, NG_021281.3:g.11711C>G, NM_004649.8:c.502C>G, NM_004649.7:c.502C>G, NM_004649.6:c.502C>G, NR_135220.2:n.464C>G, NR_135220.1:n.535C>G, NM_001320384.2:c.502C>G, NM_001320384.1:c.502C>G, NM_001320383.2:c.502C>G, NM_001320383.1:c.502C>G, XM_017028479.2:c.244C>G, XM_017028479.1:c.244C>G, NP_004640.4:p.Gln168Glu, NP_001307313.1:p.Gln168Glu, NP_001307312.1:p.Gln168Glu, XP_016883968.1:p.Gln82Glu

Select item 142965157215.

rs1429651572 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 21:44143296 (GRCh38)
21:45563178 (GRCh37)
Canonical SPDI:: NC_000021.9:44143295:CC:C
Gene:: GATD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44143297del, NC_000021.8:g.45563179del, NG_021281.3:g.14685del, NM_004649.8:c.614del, NM_004649.7:c.614del, NM_004649.6:c.614del, NM_198155.5:c.521del, NM_198155.4:c.521del, NM_198155.3:c.521del, NR_135220.2:n.576del, NR_135220.1:n.647del, XM_017028479.2:c.356del, XM_017028479.1:c.356del, NP_004640.4:p.Pro205fs, NP_937798.4:p.Pro174fs, XP_016883968.1:p.Pro119fs

Select item 142883922416.

rs1428839224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44143328 (GRCh38)
21:45563210 (GRCh37)
Canonical SPDI:: NC_000021.9:44143327:C:G
Gene:: GATD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.44143328C>G, NC_000021.8:g.45563210C>G, NG_021281.3:g.14716C>G, NM_004649.8:c.645C>G, NM_004649.7:c.645C>G, NM_004649.6:c.645C>G, NM_198155.5:c.552C>G, NM_198155.4:c.552C>G, NM_198155.3:c.552C>G, NR_135220.2:n.607C>G, NR_135220.1:n.678C>G, XM_017028479.2:c.387C>G, XM_017028479.1:c.387C>G

Select item 142805221917.

rs1428052219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44144938 (GRCh38)
21:45564820 (GRCh37)
Canonical SPDI:: NC_000021.9:44144937:A:G
Gene:: GATD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44144938A>G, NC_000021.8:g.45564820A>G, NG_021281.3:g.16326A>G, NM_004649.8:c.796A>G, NM_004649.7:c.796A>G, NM_004649.6:c.796A>G, NM_198155.5:c.703A>G, NM_198155.4:c.703A>G, NM_198155.3:c.703A>G, NR_135220.2:n.758A>G, NR_135220.1:n.829A>G, XM_017028479.2:c.538A>G, XM_017028479.1:c.538A>G, NP_004640.4:p.Thr266Ala, NP_937798.4:p.Thr235Ala, XP_016883968.1:p.Thr180Ala

Select item 142382441318.

rs1423824413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:44133819 (GRCh38)
21:45553701 (GRCh37)
Canonical SPDI:: NC_000021.9:44133818:C:G
Gene:: GATD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44133819C>G, NC_000021.8:g.45553701C>G, NG_021281.3:g.5207C>G, NM_004649.8:c.122C>G, NM_004649.7:c.122C>G, NM_004649.6:c.122C>G, NM_198155.5:c.122C>G, NM_198155.4:c.122C>G, NM_198155.3:c.122C>G, NR_135220.2:n.137C>G, NR_135220.1:n.208C>G, NM_001320384.2:c.122C>G, NM_001320384.1:c.122C>G, NM_001320383.2:c.122C>G, NM_001320383.1:c.122C>G, NP_004640.4:p.Pro41Arg, NP_937798.4:p.Pro41Arg, NP_001307313.1:p.Pro41Arg, NP_001307312.1:p.Pro41Arg

Select item 140915799219.

rs1409157992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:44133790 (GRCh38)
21:45553672 (GRCh37)
Canonical SPDI:: NC_000021.9:44133789:C:A
Gene:: GATD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
HGVS:: NC_000021.9:g.44133790C>A, NC_000021.8:g.45553672C>A, NG_021281.3:g.5178C>A, NM_004649.8:c.93C>A, NM_004649.7:c.93C>A, NM_004649.6:c.93C>A, NM_198155.5:c.93C>A, NM_198155.4:c.93C>A, NM_198155.3:c.93C>A, NR_135220.2:n.108C>A, NR_135220.1:n.179C>A, NM_001320384.2:c.93C>A, NM_001320384.1:c.93C>A, NM_001320383.2:c.93C>A, NM_001320383.1:c.93C>A

Select item 140547649720.

rs1405476497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44133837 (GRCh38)
21:45553719 (GRCh37)
Canonical SPDI:: NC_000021.9:44133836:T:C
Gene:: GATD3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.44133837T>C, NC_000021.8:g.45553719T>C, NG_021281.3:g.5225T>C, NM_004649.8:c.140T>C, NM_004649.7:c.140T>C, NM_004649.6:c.140T>C, NM_198155.5:c.140T>C, NM_198155.4:c.140T>C, NM_198155.3:c.140T>C, NR_135220.2:n.155T>C, NR_135220.1:n.226T>C, NM_001320384.2:c.140T>C, NM_001320384.1:c.140T>C, NM_001320383.2:c.140T>C, NM_001320383.1:c.140T>C, NP_004640.4:p.Leu47Pro, NP_937798.4:p.Leu47Pro, NP_001307313.1:p.Leu47Pro, NP_001307312.1:p.Leu47Pro

dbSNP

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