dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.70064270C>A , CM000670.2:g.70064270C>A | GRCh38 |
| NC_000008.10:g.70976505C>A , CM000670.1:g.70976505C>A | GRCh37 |
| NC_000008.9:g.71139059C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276594.3:c.1183+1965G>T MANE Select | ENSP00000276594.2:n.1183+1965G>T | |
| ENST00000276594.2:c.1183+1965G>T | ENSP00000276594.2:n.1183+1965G>T | |
| NM_024504.3:c.1183+1965G>T | NP_078780.1:n.1183+1965G>T | |
| XM_011517572.1:c.418+1965G>T | XP_011515874.1:n.418+1965G>T | |
| XM_011517572.2:c.418+1965G>T | XP_011515874.1:n.418+1965G>T | |
| NM_024504.4:c.1183+1965G>T MANE Select | NP_078780.1:n.1183+1965G>T |