Linked Data
ClinVar Variation Id:
1404911
ClinVar RCV Id:
RCV001899129
dbSNP Id:
rs574079603
gnomAD v2:
12-116429404-C-T
gnomAD v3:
12-115991599-C-T
gnomAD v4:
12-115991599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115991599C>T , CM000674.2:g.115991599C>T | GRCh38 |
| NC_000012.11:g.116429404C>T , CM000674.1:g.116429404C>T | GRCh37 |
| NC_000012.10:g.114913787C>T | NCBI36 |
| NG_023366.1:g.290588G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.3355G>A MANE Select | ENSP00000281928.3:p.Val1119Met | |
| ENST00000549786.2:c.2783G>A | ||
| ENST00000648379.1:n.1723G>A | ||
| ENST00000648737.1:n.3119G>A | ||
| ENST00000648825.1:n.95G>A | ||
| ENST00000648916.1:n.1366G>A | ||
| ENST00000649607.1:c.1539G>A | ||
| ENST00000650226.1:c.3355G>A | ENSP00000496981.1:p.Val1119Met | |
| ENST00000281928.7:c.3355G>A | ENSP00000281928.3:p.Val1119Met | |
| NM_015335.4:c.3355G>A | NP_056150.1:p.Val1119Met | |
| XM_011538080.1:c.3355G>A | XP_011536382.1:p.Val1119Met | |
| XM_011538081.1:c.3352G>A | XP_011536383.1:p.Val1118Met | |
| XM_011538082.1:c.3325G>A | XP_011536384.1:p.Val1109Met | |
| XM_011538080.2:c.3355G>A | XP_011536382.1:p.Val1119Met | |
| XM_011538081.2:c.3352G>A | XP_011536383.1:p.Val1118Met | |
| XM_011538082.2:c.3325G>A | XP_011536384.1:p.Val1109Met | |
| XM_017019090.1:c.3352G>A | XP_016874579.1:p.Val1118Met | |
| NM_015335.5:c.3355G>A MANE Select | NP_056150.1:p.Val1119Met |