Linked Data
ClinVar Variation Id:
13397
ClinVar RCV Id:
RCV000014331
RCV000014332
RCV000014333
RCV000020244
RCV000118064
RCV000990275
RCV001262968
RCV001723566
RCV002490365
dbSNP Id:
rs1799990
ExAC:
20:4680251 A / G
gnomAD v2:
20-4680251-A-G
gnomAD v3:
20-4699605-A-G
gnomAD v4:
20-4699605-A-G
PubMed:
PMID:1353341
PMID:1675319
PMID:1677164
PMID:1682813
PMID:1684089
PMID:1971924
PMID:2378641
PMID:2783132
PMID:7845623
PMID:7908444
PMID:8137139
PMID:9643750
PMID:9748018
PMID:9751723
PMID:9789072
PMID:10437852
PMID:10581230
PMID:10953203
PMID:11488277
PMID:11506406
PMID:11506411
PMID:11749972
PMID:11840201
PMID:12601712
PMID:12867116
PMID:12891686
PMID:14520676
PMID:14970845
PMID:15277640
PMID:15539564
PMID:15987701
PMID:16217673
PMID:16315279
PMID:16391566
PMID:16565881
PMID:16969862
PMID:18955686
PMID:19923577
PMID:20301407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4699605A>G , CM000682.2:g.4699605A>G | GRCh38 |
| NC_000020.10:g.4680251A>G , CM000682.1:g.4680251A>G | GRCh37 |
| NC_000020.9:g.4628251A>G | NCBI36 |
| NG_009087.1:g.18455A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379440.9:c.385A>G MANE Select | ENSP00000368752.4:p.Met129Val | |
| ENST00000424424.2:c.385A>G | ENSP00000411599.2:p.Met129Val | |
| ENST00000457586.2:c.385A>G | ENSP00000415284.2:p.Met129Val | |
| ENST00000379440.8:c.385A>G | ENSP00000368752.4:p.Met129Val | |
| ENST00000424424.1:c.385A>G | ENSP00000411599.1:p.Met129Val | |
| ENST00000430350.2:c.385A>G | ENSP00000399376.2:p.Met129Val | |
| ENST00000457586.1:c.385A>G | ENSP00000415284.1:p.Met129Val | |
| NM_000311.3:c.385A>G | NP_000302.1:p.Met129Val | |
| NM_001080121.1:c.385A>G | NP_001073590.1:p.Met129Val | |
| NM_001080122.1:c.385A>G | NP_001073591.1:p.Met129Val | |
| NM_001080123.1:c.385A>G | NP_001073592.1:p.Met129Val | |
| NM_001271561.1:c.*74A>G | NP_001258490.1:n.*74A>G | |
| NM_183079.2:c.385A>G | NP_898902.1:p.Met129Val | |
| NM_000311.4:c.385A>G | NP_000302.1:p.Met129Val | |
| NM_001080121.2:c.385A>G | NP_001073590.1:p.Met129Val | |
| NM_001080122.2:c.385A>G | NP_001073591.1:p.Met129Val | |
| NM_001080123.2:c.385A>G | NP_001073592.1:p.Met129Val | |
| NM_001271561.2:c.*74A>G | NP_001258490.1:n.*74A>G | |
| NM_183079.3:c.385A>G | NP_898902.1:p.Met129Val | |
| NM_000311.5:c.385A>G MANE Select | NP_000302.1:p.Met129Val | |
| NM_001080121.3:c.385A>G | NP_001073590.1:p.Met129Val | |
| NM_001080122.3:c.385A>G | NP_001073591.1:p.Met129Val | |
| NM_001080123.3:c.385A>G | NP_001073592.1:p.Met129Val | |
| NM_001271561.3:c.*74A>G | NP_001258490.1:n.*74A>G | |
| NM_183079.4:c.385A>G | NP_898902.1:p.Met129Val |