Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6125763C>A , CM000663.2:g.6125763C>A | GRCh38 |
| NC_000001.10:g.6185823C>A , CM000663.1:g.6185823C>A | GRCh37 |
| NC_000001.9:g.6108410C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015557.3:c.4171+3G>T MANE Select | NP_056372.1:n.4171+3G>T |
| ENST00000262450.8:c.4171+3G>T MANE Select | ENSP00000262450.3:n.4171+3G>T |
| NM_015557.2:c.4171+3G>T | NP_056372.1:n.4171+3G>T |
| ENST00000262450.7:c.4171+3G>T | ENSP00000262450.3:n.4171+3G>T |
| ENST00000377999.5:c.1074+3G>T | ENSP00000367238.2:n.1074+3G>T |
| ENST00000462991.5:c.2318+3G>T | |
| ENST00000491020.1:c.567+3G>T | |
| ENST00000496404.1:c.3417+3277G>T | ENSP00000433676.1:n.3417+3277G>T |