Linked Data
dbSNP Id:
rs184277621
ExAC:
12:58158376 C / A
gnomAD v2:
12-58158376-C-A
gnomAD v3:
12-57764593-C-A
gnomAD v4:
12-57764593-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764593C>A , CM000674.2:g.57764593C>A | GRCh38 |
| NC_000012.11:g.58158376C>A , CM000674.1:g.58158376C>A | GRCh37 |
| NC_000012.10:g.56444643C>A | NCBI36 |
| NG_007076.1:g.7601G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1045-43G>T | ENSP00000518840.1:n.1045-43G>T | |
| ENST00000713545.1:c.1022-43G>T | ENSP00000518841.1:n.1022-43G>T | |
| ENST00000228606.9:c.964-43G>T MANE Select | ENSP00000228606.4:n.964-43G>T | |
| ENST00000228606.8:c.964-43G>T | ENSP00000228606.4:n.964-43G>T | |
| ENST00000546567.5:c.259-43G>T | ENSP00000449472.1:n.259-43G>T | |
| ENST00000547344.5:n.1103-43G>T | ||
| ENST00000547451.1:n.924G>T | ||
| NM_000785.3:c.964-43G>T | NP_000776.1:n.964-43G>T | |
| NM_000785.4:c.964-43G>T MANE Select | NP_000776.1:n.964-43G>T |