Linked Data
ClinVar Variation Id:
7331
ClinVar RCV Id:
RCV000007756
dbSNP Id:
rs121434448
PubMed:
PMID:9736769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22116400A>T , CM000670.2:g.22116400A>T | GRCh38 |
| NC_000008.10:g.21973913A>T , CM000670.1:g.21973913A>T | GRCh37 |
| NC_000008.9:g.22029858A>T | NCBI36 |
| NG_008166.1:g.19118T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381418.9:c.3407T>A MANE Select | ENSP00000370826.4:p.Val1136Asp | |
| ENST00000680789.1:c.3407T>A | ENSP00000505181.1:p.Val1136Asp | |
| ENST00000312841.9:c.3242T>A | ENSP00000326765.8:p.Val1081Asp | |
| ENST00000381418.8:c.3407T>A | ENSP00000370826.4:p.Val1136Asp | |
| ENST00000522016.1:n.1600T>A | ||
| NM_005144.4:c.3407T>A | NP_005135.2:p.Val1136Asp | |
| NM_018411.4:c.3242T>A | NP_060881.2:p.Val1081Asp | |
| XM_005273569.1:c.3410T>A | XP_005273626.1:p.Val1137Asp | |
| XM_006716367.1:c.3245T>A | XP_006716430.1:p.Val1082Asp | |
| XM_005273569.2:c.3410T>A | XP_005273626.1:p.Val1137Asp | |
| XM_006716367.2:c.3245T>A | XP_006716430.1:p.Val1082Asp | |
| NM_005144.5:c.3407T>A MANE Select | NP_005135.2:p.Val1136Asp |