Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95298183G>A , CM000669.2:g.95298183G>A | GRCh38 |
| NC_000007.13:g.94927495G>A , CM000669.1:g.94927495G>A | GRCh37 |
| NC_000007.12:g.94765431G>A | NCBI36 |
| NG_008779.1:g.31390C>T | |
| NG_015803.1:g.395547G>A | |
| NG_008779.2:g.31524C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000446.7:c.*761C>T MANE Select | NP_000437.3:n.*761C>T |
| ENST00000222381.8:c.*761C>T MANE Select | ENSP00000222381.3:n.*761C>T |
| NM_000446.6:c.*761C>T | NP_000437.3:n.*761C>T |
| ENST00000222381.7:c.*761C>T | ENSP00000222381.3:n.*761C>T |