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