Linked Data
ClinVar Variation Id:
292953
dbSNP Id:
rs141823269
ExAC:
1:158589999 C / A
gnomAD v2:
1-158589999-C-A
gnomAD v3:
1-158620209-C-A
gnomAD v4:
1-158620209-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158620209C>A , CM000663.2:g.158620209C>A | GRCh38 |
| NC_000001.10:g.158589999C>A , CM000663.1:g.158589999C>A | GRCh37 |
| NC_000001.9:g.156856623C>A | NCBI36 |
| NG_011474.1:g.71508G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.6378G>T MANE Select | ENSP00000495214.1:p.Val2126= | |
| ENST00000368147.8:c.6378G>T | ENSP00000357129.4:p.Val2126= | |
| ENST00000484520.1:n.581G>T | ||
| ENST00000614909.4:c.6378G>T | ENSP00000482595.1:p.Val2126= | |
| NM_003126.2:c.6378G>T | NP_003117.2:p.Val2126= | |
| XM_011509916.1:c.6378G>T | XP_011508218.1:p.Val2126= | |
| XM_011509917.1:c.6378G>T | XP_011508219.1:p.Val2126= | |
| NM_003126.3:c.6378G>T | NP_003117.2:p.Val2126= | |
| XM_011509916.2:c.6378G>T | XP_011508218.1:p.Val2126= | |
| XM_011509917.3:c.6378G>T | XP_011508219.1:p.Val2126= | |
| NM_003126.4:c.6378G>T MANE Select | NP_003117.2:p.Val2126= |