SNP Links for Protein (Select 296317249) - SNP

Links from Protein

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Select item 14705624811.

rs1470562481 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:155507004 (GRCh38)
X:154736665 (GRCh37)
Canonical SPDI:: NC_000023.11:155507003:A:G
Gene:: TMLHE (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.155507004A>G, NW_003871103.3:g.2940983A>G, NG_021318.1:g.110958T>C, NM_018196.4:c.889T>C, NM_018196.3:c.889T>C, NM_001184797.2:c.889T>C, NM_001184797.1:c.889T>C, NC_000023.10:g.154736665A>G, XM_011531182.4:c.736T>C, XM_011531182.3:c.736T>C, XM_011531182.2:c.736T>C, XM_011531182.1:c.736T>C, XM_047442234.1:c.736T>C, XM_047442235.1:c.685T>C, XM_047442236.1:c.685T>C

Select item 14573870002.

rs1457387000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155524553 (GRCh38)
X:154754214 (GRCh37)
Canonical SPDI:: NC_000023.11:155524552:G:A
Gene:: TMLHE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.155524553G>A, NW_003871103.3:g.2958532G>A, NG_021318.1:g.93409C>T, NM_018196.4:c.261C>T, NM_018196.3:c.261C>T, NM_001184797.2:c.261C>T, NM_001184797.1:c.261C>T, NC_000023.10:g.154754214G>A, XM_011531182.4:c.108C>T, XM_011531182.3:c.108C>T, XM_011531182.2:c.108C>T, XM_011531182.1:c.108C>T, XM_017029620.3:c.261C>T, XM_017029620.2:c.261C>T, XM_017029620.1:c.261C>T, XM_047442234.1:c.108C>T, XM_047442235.1:c.57C>T, XM_047442236.1:c.57C>T

Select item 14560032123.

rs1456003212 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:155506963 (GRCh38)
X:154736625 (GRCh37)
Canonical SPDI:: NC_000023.11:155506963:TT:TTT
Gene:: TMLHE (Varview)
Functional Consequence:: frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.155506965dup, NW_003871103.3:g.2940944dup, NG_021318.1:g.110998dup, NM_018196.4:c.929dup, NM_018196.3:c.929dup, NM_001184797.2:c.929dup, NM_001184797.1:c.929dup, NC_000023.10:g.154736626dup, XM_011531182.4:c.776dup, XM_011531182.3:c.776dup, XM_011531182.2:c.776dup, XM_011531182.1:c.776dup, XM_047442234.1:c.776dup, XM_047442235.1:c.725dup, XM_047442236.1:c.725dup, NP_060666.1:p.Asn310fs, NP_001171726.1:p.Asn310fs, XP_011529484.1:p.Asn259fs, XP_047298190.1:p.Asn259fs, XP_047298191.1:p.Asn242fs, XP_047298192.1:p.Asn242fs

Select item 14500653574.

rs1450065357 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: X:155514093 (GRCh38)
X:154743754 (GRCh37)
Canonical SPDI:: NC_000023.11:155514092:C:
Gene:: TMLHE (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.155514093del, NW_003871103.3:g.2948072del, NG_021318.1:g.103869del, NM_018196.4:c.531del, NM_018196.3:c.531del, NM_001184797.2:c.531del, NM_001184797.1:c.531del, NC_000023.10:g.154743754del, XM_011531182.4:c.378del, XM_011531182.3:c.378del, XM_011531182.2:c.378del, XM_011531182.1:c.378del, XM_017029620.3:c.531del, XM_017029620.2:c.531del, XM_017029620.1:c.531del, XM_047442234.1:c.378del, XM_047442235.1:c.327del, XM_047442236.1:c.327del, NP_060666.1:p.Lys178fs, NP_001171726.1:p.Lys178fs, XP_011529484.1:p.Lys127fs, XP_016885109.1:p.Lys178fs, XP_047298190.1:p.Lys127fs, XP_047298191.1:p.Lys110fs, XP_047298192.1:p.Lys110fs

Select item 14453858785.

rs1445385878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155511762 (GRCh38)
X:154741423 (GRCh37)
Canonical SPDI:: NC_000023.11:155511761:G:A
Gene:: TMLHE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155511762G>A, NW_003871103.3:g.2945741G>A, NG_021318.1:g.106200C>T, NM_018196.4:c.669C>T, NM_018196.3:c.669C>T, NM_001184797.2:c.669C>T, NM_001184797.1:c.669C>T, NC_000023.10:g.154741423G>A, XM_011531182.4:c.516C>T, XM_011531182.3:c.516C>T, XM_011531182.2:c.516C>T, XM_011531182.1:c.516C>T, XM_017029620.3:c.669C>T, XM_017029620.2:c.669C>T, XM_017029620.1:c.669C>T, XM_047442234.1:c.516C>T, XM_047442235.1:c.465C>T, XM_047442236.1:c.465C>T

Select item 14453425426.

rs1445342542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:155524589 (GRCh38)
X:154754250 (GRCh37)
Canonical SPDI:: NC_000023.11:155524588:C:G
Gene:: TMLHE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155524589C>G, NW_003871103.3:g.2958568C>G, NG_021318.1:g.93373G>C, NM_018196.4:c.225G>C, NM_018196.3:c.225G>C, NM_001184797.2:c.225G>C, NM_001184797.1:c.225G>C, NC_000023.10:g.154754250C>G, XM_011531182.4:c.72G>C, XM_011531182.3:c.72G>C, XM_011531182.2:c.72G>C, XM_011531182.1:c.72G>C, XM_017029620.3:c.225G>C, XM_017029620.2:c.225G>C, XM_017029620.1:c.225G>C, XM_047442234.1:c.72G>C, XM_047442235.1:c.21G>C, XM_047442236.1:c.21G>C, NP_060666.1:p.Trp75Cys, NP_001171726.1:p.Trp75Cys, XP_011529484.1:p.Trp24Cys, XP_016885109.1:p.Trp75Cys, XP_047298190.1:p.Trp24Cys, XP_047298191.1:p.Trp7Cys, XP_047298192.1:p.Trp7Cys

Select item 14446594597.

rs1444659459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155513994 (GRCh38)
X:154743655 (GRCh37)
Canonical SPDI:: NC_000023.11:155513993:G:A
Gene:: TMLHE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155513994G>A, NW_003871103.3:g.2947973G>A, NG_021318.1:g.103968C>T, NM_018196.4:c.630C>T, NM_018196.3:c.630C>T, NM_001184797.2:c.630C>T, NM_001184797.1:c.630C>T, NC_000023.10:g.154743655G>A, XM_011531182.4:c.477C>T, XM_011531182.3:c.477C>T, XM_011531182.2:c.477C>T, XM_011531182.1:c.477C>T, XM_017029620.3:c.630C>T, XM_017029620.2:c.630C>T, XM_017029620.1:c.630C>T, XM_047442234.1:c.477C>T, XM_047442235.1:c.426C>T, XM_047442236.1:c.426C>T

Select item 14391300408.

rs1439130040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155524628 (GRCh38)
X:154754289 (GRCh37)
Canonical SPDI:: NC_000023.11:155524627:C:T
Gene:: TMLHE (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155524628C>T, NW_003871103.3:g.2958607C>T, NG_021318.1:g.93334G>A, NM_018196.4:c.186G>A, NM_018196.3:c.186G>A, NM_001184797.2:c.186G>A, NM_001184797.1:c.186G>A, NC_000023.10:g.154754289C>T, XM_011531182.4:c.33G>A, XM_011531182.3:c.33G>A, XM_011531182.2:c.33G>A, XM_011531182.1:c.33G>A, XM_017029620.3:c.186G>A, XM_017029620.2:c.186G>A, XM_017029620.1:c.186G>A, XM_047442234.1:c.33G>A, XM_047442235.1:c.-19G>A, XM_047442236.1:c.-19G>A

Select item 14370034609.

rs1437003460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:155507132 (GRCh38)
X:154736793 (GRCh37)
Canonical SPDI:: NC_000023.11:155507131:A:G
Gene:: TMLHE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.155507132A>G, NW_003871103.3:g.2941111A>G, NG_021318.1:g.110830T>C, NM_018196.4:c.761T>C, NM_018196.3:c.761T>C, NM_001184797.2:c.761T>C, NM_001184797.1:c.761T>C, NC_000023.10:g.154736793A>G, XM_011531182.4:c.608T>C, XM_011531182.3:c.608T>C, XM_011531182.2:c.608T>C, XM_011531182.1:c.608T>C, XM_047442234.1:c.608T>C, XM_047442235.1:c.557T>C, XM_047442236.1:c.557T>C, NP_060666.1:p.Ile254Thr, NP_001171726.1:p.Ile254Thr, XP_011529484.1:p.Ile203Thr, XP_047298190.1:p.Ile203Thr, XP_047298191.1:p.Ile186Thr, XP_047298192.1:p.Ile186Thr

Select item 143405261110.

rs1434052611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:155545181 (GRCh38)
X:154774842 (GRCh37)
Canonical SPDI:: NC_000023.11:155545180:T:A
Gene:: TMLHE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.155545181T>A, NW_003871103.3:g.2979160T>A, NG_021318.1:g.72781A>T, NM_018196.4:c.96A>T, NM_018196.3:c.96A>T, NM_001184797.2:c.96A>T, NM_001184797.1:c.96A>T, NC_000023.10:g.154774842T>A, XM_017029620.3:c.96A>T, XM_017029620.2:c.96A>T, XM_017029620.1:c.96A>T, NP_060666.1:p.Lys32Asn, NP_001171726.1:p.Lys32Asn, XP_016885109.1:p.Lys32Asn

Select item 143173208611.

rs1431732086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:155545158 (GRCh38)
X:154774819 (GRCh37)
Canonical SPDI:: NC_000023.11:155545157:T:G
Gene:: TMLHE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155545158T>G, NW_003871103.3:g.2979137T>G, NG_021318.1:g.72804A>C, NM_018196.4:c.119A>C, NM_018196.3:c.119A>C, NM_001184797.2:c.119A>C, NM_001184797.1:c.119A>C, NC_000023.10:g.154774819T>G, XM_011531182.4:c.-187A>C, XM_011531182.3:c.-187A>C, XM_011531182.2:c.-187A>C, XM_011531182.1:c.-187A>C, XM_017029620.3:c.119A>C, XM_017029620.2:c.119A>C, XM_017029620.1:c.119A>C, NP_060666.1:p.His40Pro, NP_001171726.1:p.His40Pro, XP_016885109.1:p.His40Pro

Select item 142751729312.

rs1427517293 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:155545182 (GRCh38)
X:154774843 (GRCh37)
Canonical SPDI:: NC_000023.11:155545181:T:C
Gene:: TMLHE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155545182T>C, NW_003871103.3:g.2979161T>C, NG_021318.1:g.72780A>G, NM_018196.4:c.95A>G, NM_018196.3:c.95A>G, NM_001184797.2:c.95A>G, NM_001184797.1:c.95A>G, NC_000023.10:g.154774843T>C, XM_017029620.3:c.95A>G, XM_017029620.2:c.95A>G, XM_017029620.1:c.95A>G, NP_060666.1:p.Lys32Arg, NP_001171726.1:p.Lys32Arg, XP_016885109.1:p.Lys32Arg

Select item 142358763913.

rs1423587639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:155524535 (GRCh38)
X:154754196 (GRCh37)
Canonical SPDI:: NC_000023.11:155524534:G:T
Gene:: TMLHE (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155524535G>T, NW_003871103.3:g.2958514G>T, NG_021318.1:g.93427C>A, NM_018196.4:c.279C>A, NM_018196.3:c.279C>A, NM_001184797.2:c.279C>A, NM_001184797.1:c.279C>A, NC_000023.10:g.154754196G>T, XM_011531182.4:c.126C>A, XM_011531182.3:c.126C>A, XM_011531182.2:c.126C>A, XM_011531182.1:c.126C>A, XM_017029620.3:c.279C>A, XM_017029620.2:c.279C>A, XM_017029620.1:c.279C>A, XM_047442234.1:c.126C>A, XM_047442235.1:c.75C>A, XM_047442236.1:c.75C>A

Select item 141650170614.

rs1416501706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:155524530 (GRCh38)
X:154754191 (GRCh37)
Canonical SPDI:: NC_000023.11:155524529:A:G
Gene:: TMLHE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.155524530A>G, NW_003871103.3:g.2958509A>G, NG_021318.1:g.93432T>C, NM_018196.4:c.284T>C, NM_018196.3:c.284T>C, NM_001184797.2:c.284T>C, NM_001184797.1:c.284T>C, NC_000023.10:g.154754191A>G, XM_011531182.4:c.131T>C, XM_011531182.3:c.131T>C, XM_011531182.2:c.131T>C, XM_011531182.1:c.131T>C, XM_017029620.3:c.284T>C, XM_017029620.2:c.284T>C, XM_017029620.1:c.284T>C, XM_047442234.1:c.131T>C, XM_047442235.1:c.80T>C, XM_047442236.1:c.80T>C, NP_060666.1:p.Leu95Pro, NP_001171726.1:p.Leu95Pro, XP_011529484.1:p.Leu44Pro, XP_016885109.1:p.Leu95Pro, XP_047298190.1:p.Leu44Pro, XP_047298191.1:p.Leu27Pro, XP_047298192.1:p.Leu27Pro

Select item 140765838715.

rs1407658387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155514143 (GRCh38)
X:154743804 (GRCh37)
Canonical SPDI:: NC_000023.11:155514142:G:A
Gene:: TMLHE (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.155514143G>A, NW_003871103.3:g.2948122G>A, NG_021318.1:g.103819C>T, NM_018196.4:c.481C>T, NM_018196.3:c.481C>T, NM_001184797.2:c.481C>T, NM_001184797.1:c.481C>T, NC_000023.10:g.154743804G>A, XM_011531182.4:c.328C>T, XM_011531182.3:c.328C>T, XM_011531182.2:c.328C>T, XM_011531182.1:c.328C>T, XM_017029620.3:c.481C>T, XM_017029620.2:c.481C>T, XM_017029620.1:c.481C>T, XM_047442234.1:c.328C>T, XM_047442235.1:c.277C>T, XM_047442236.1:c.277C>T, NP_060666.1:p.Gln161Ter, NP_001171726.1:p.Gln161Ter, XP_011529484.1:p.Gln110Ter, XP_016885109.1:p.Gln161Ter, XP_047298190.1:p.Gln110Ter, XP_047298191.1:p.Gln93Ter, XP_047298192.1:p.Gln93Ter

Select item 140630959216.

rs1406309592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155524506 (GRCh38)
X:154754167 (GRCh37)
Canonical SPDI:: NC_000023.11:155524505:C:T
Gene:: TMLHE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155524506C>T, NW_003871103.3:g.2958485C>T, NG_021318.1:g.93456G>A, NM_018196.4:c.308G>A, NM_018196.3:c.308G>A, NM_001184797.2:c.308G>A, NM_001184797.1:c.308G>A, NC_000023.10:g.154754167C>T, XM_011531182.4:c.155G>A, XM_011531182.3:c.155G>A, XM_011531182.2:c.155G>A, XM_011531182.1:c.155G>A, XM_017029620.3:c.308G>A, XM_017029620.2:c.308G>A, XM_017029620.1:c.308G>A, XM_047442234.1:c.155G>A, XM_047442235.1:c.104G>A, XM_047442236.1:c.104G>A, NP_060666.1:p.Cys103Tyr, NP_001171726.1:p.Cys103Tyr, XP_011529484.1:p.Cys52Tyr, XP_016885109.1:p.Cys103Tyr, XP_047298190.1:p.Cys52Tyr, XP_047298191.1:p.Cys35Tyr, XP_047298192.1:p.Cys35Tyr

Select item 139978913817.

rs1399789138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155514140 (GRCh38)
X:154743801 (GRCh37)
Canonical SPDI:: NC_000023.11:155514139:C:T
Gene:: TMLHE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.155514140C>T, NW_003871103.3:g.2948119C>T, NG_021318.1:g.103822G>A, NM_018196.4:c.484G>A, NM_018196.3:c.484G>A, NM_001184797.2:c.484G>A, NM_001184797.1:c.484G>A, NC_000023.10:g.154743801C>T, XM_011531182.4:c.331G>A, XM_011531182.3:c.331G>A, XM_011531182.2:c.331G>A, XM_011531182.1:c.331G>A, XM_017029620.3:c.484G>A, XM_017029620.2:c.484G>A, XM_017029620.1:c.484G>A, XM_047442234.1:c.331G>A, XM_047442235.1:c.280G>A, XM_047442236.1:c.280G>A, NP_060666.1:p.Val162Ile, NP_001171726.1:p.Val162Ile, XP_011529484.1:p.Val111Ile, XP_016885109.1:p.Val162Ile, XP_047298190.1:p.Val111Ile, XP_047298191.1:p.Val94Ile, XP_047298192.1:p.Val94Ile

Select item 139382984418.

rs1393829844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155506995 (GRCh38)
X:154736656 (GRCh37)
Canonical SPDI:: NC_000023.11:155506994:C:T
Gene:: TMLHE (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.155506995C>T, NW_003871103.3:g.2940974C>T, NG_021318.1:g.110967G>A, NM_018196.4:c.898G>A, NM_018196.3:c.898G>A, NM_001184797.2:c.898G>A, NM_001184797.1:c.898G>A, NC_000023.10:g.154736656C>T, XM_011531182.4:c.745G>A, XM_011531182.3:c.745G>A, XM_011531182.2:c.745G>A, XM_011531182.1:c.745G>A, XM_047442234.1:c.745G>A, XM_047442235.1:c.694G>A, XM_047442236.1:c.694G>A, NP_060666.1:p.Glu300Lys, NP_001171726.1:p.Glu300Lys, XP_011529484.1:p.Glu249Lys, XP_047298190.1:p.Glu249Lys, XP_047298191.1:p.Glu232Lys, XP_047298192.1:p.Glu232Lys

Select item 139001434519.

rs1390014345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155506943 (GRCh38)
X:154736604 (GRCh37)
Canonical SPDI:: NC_000023.11:155506942:G:A
Gene:: TMLHE (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155506943G>A, NW_003871103.3:g.2940922G>A, NG_021318.1:g.111019C>T, NM_018196.4:c.950C>T, NM_018196.3:c.950C>T, NM_001184797.2:c.950C>T, NM_001184797.1:c.950C>T, NC_000023.10:g.154736604G>A, XM_011531182.4:c.797C>T, XM_011531182.3:c.797C>T, XM_011531182.2:c.797C>T, XM_011531182.1:c.797C>T, XM_047442234.1:c.797C>T, XM_047442235.1:c.746C>T, XM_047442236.1:c.746C>T, NP_060666.1:p.Pro317Leu, NP_001171726.1:p.Pro317Leu, XP_011529484.1:p.Pro266Leu, XP_047298190.1:p.Pro266Leu, XP_047298191.1:p.Pro249Leu, XP_047298192.1:p.Pro249Leu

Select item 138834137920.

rs1388341379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:155545162 (GRCh38)
X:154774823 (GRCh37)
Canonical SPDI:: NC_000023.11:155545161:C:G
Gene:: TMLHE (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155545162C>G, NW_003871103.3:g.2979141C>G, NG_021318.1:g.72800G>C, NM_018196.4:c.115G>C, NM_018196.3:c.115G>C, NM_001184797.2:c.115G>C, NM_001184797.1:c.115G>C, NC_000023.10:g.154774823C>G, XM_017029620.3:c.115G>C, XM_017029620.2:c.115G>C, XM_017029620.1:c.115G>C, NP_060666.1:p.Val39Leu, NP_001171726.1:p.Val39Leu, XP_016885109.1:p.Val39Leu

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