Linked Data
dbSNP Id:
rs147839187
ExAC:
12:116413158 G / A
gnomAD v2:
12-116413158-G-A
gnomAD v3:
12-115975353-G-A
gnomAD v4:
12-115975353-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115975353G>A , CM000674.2:g.115975353G>A | GRCh38 |
| NC_000012.11:g.116413158G>A , CM000674.1:g.116413158G>A | GRCh37 |
| NC_000012.10:g.114897541G>A | NCBI36 |
| NG_023366.1:g.306834C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5589-40C>T MANE Select | ENSP00000281928.3:n.5589-40C>T | |
| ENST00000548694.2:n.539C>T | ||
| ENST00000648379.1:n.3957-40C>T | ||
| ENST00000648737.1:n.5353-40C>T | ||
| ENST00000648825.1:n.3774-40C>T | ||
| ENST00000648916.1:n.3600-40C>T | ||
| ENST00000649607.1:c.3773-40C>T | ||
| ENST00000649775.1:c.2078-40C>T | ||
| ENST00000650226.1:c.5589-4C>T | ENSP00000496981.1:n.5589-4C>T | |
| ENST00000281928.7:c.5589-40C>T | ENSP00000281928.3:n.5589-40C>T | |
| ENST00000548694.1:n.539C>T | ||
| ENST00000552447.1:c.166-4C>T | ||
| NM_015335.4:c.5589-40C>T | NP_056150.1:n.5589-40C>T | |
| XM_011538080.1:c.5589-4C>T | XP_011536382.1:n.5589-4C>T | |
| XM_011538081.1:c.5586-4C>T | XP_011536383.1:n.5586-4C>T | |
| XM_011538082.1:c.5559-4C>T | XP_011536384.1:n.5559-4C>T | |
| XM_011538080.2:c.5589-4C>T | XP_011536382.1:n.5589-4C>T | |
| XM_011538081.2:c.5586-4C>T | XP_011536383.1:n.5586-4C>T | |
| XM_011538082.2:c.5559-4C>T | XP_011536384.1:n.5559-4C>T | |
| XM_017019090.1:c.5586-40C>T | XP_016874579.1:n.5586-40C>T | |
| NM_015335.5:c.5589-40C>T MANE Select | NP_056150.1:n.5589-40C>T |