Linked Data
ClinVar Variation Id:
515432
dbSNP Id:
rs138189035
ExAC:
1:201017774 G / A
gnomAD v2:
1-201017774-G-A
gnomAD v3:
1-201048646-G-A
gnomAD v4:
1-201048646-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201048646G>A , CM000663.2:g.201048646G>A | GRCh38 |
| NC_000001.10:g.201017774G>A , CM000663.1:g.201017774G>A | GRCh37 |
| NC_000001.9:g.199284397G>A | NCBI36 |
| NG_009816.1:g.68921C>T | |
| NG_009816.2:g.68921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.4377C>T MANE Select | ENSP00000355192.3:p.Gly1459= | |
| ENST00000679417.1:c.*3540C>T | ENSP00000506706.1:n.*3540C>T | |
| ENST00000680051.1:n.1503C>T | ||
| ENST00000680059.1:c.*1895C>T | ENSP00000504944.1:n.*1895C>T | |
| ENST00000681078.1:c.*152C>T | ENSP00000506645.1:n.*152C>T | |
| ENST00000681190.1:c.*559C>T | ENSP00000506428.1:n.*559C>T | |
| ENST00000681874.1:c.4317C>T | ENSP00000505162.1:p.Gly1439= | |
| ENST00000362061.3:c.4377C>T | ENSP00000355192.3:p.Gly1459= | |
| ENST00000367338.7:c.4320C>T | ENSP00000356307.3:p.Gly1440= | |
| NM_000069.2:c.4377C>T | NP_000060.2:p.Gly1459= | |
| XM_005245478.2:c.4320C>T | XP_005245535.1:p.Gly1440= | |
| XM_005245478.3:c.4320C>T | XP_005245535.1:p.Gly1440= | |
| NM_000069.3:c.4377C>T MANE Select | NP_000060.2:p.Gly1459= |