Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147529799G>T , CM000669.2:g.147529799G>T | GRCh38 |
| NC_000007.13:g.147226891G>T , CM000669.1:g.147226891G>T | GRCh37 |
| NC_000007.12:g.146857824G>T | NCBI36 |
| NG_007092.2:g.1418439G>T | |
| NG_007092.3:g.1418799G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.1778-32339G>T MANE Select | NP_054860.1:n.1778-32339G>T |
| ENST00000361727.8:c.1778-32339G>T MANE Select | ENSP00000354778.3:n.1778-32339G>T |
| NM_014141.5:c.1778-32339G>T | NP_054860.1:n.1778-32339G>T |
| ENST00000361727.7:c.1778-32339G>T | ENSP00000354778.3:n.1778-32339G>T |
| ENST00000636870.1:n.1640-32339G>T | |
| ENST00000637825.1:n.1261-32339G>T | |
| ENST00000638117.1:n.1681-32339G>T | |
| XM_006715919.1:c.266-32339G>T | XP_006715982.1:n.266-32339G>T |
| XM_017011950.2:c.1778-32339G>T | XP_016867439.1:n.1778-32339G>T |