Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12777469G>T , CM000686.2:g.12777469G>T | GRCh38 |
| NC_000024.9:g.14889403G>T , CM000686.1:g.14889403G>T | GRCh37 |
| NC_000024.8:g.13398797G>T | NCBI36 |
| NG_008311.1:g.81244G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.2640-550G>T MANE Select | NP_004645.2:n.2640-550G>T |
| ENST00000338981.7:c.2640-550G>T MANE Select | ENSP00000342812.3:n.2640-550G>T |
| NM_004654.3:c.2640-550G>T | NP_004645.2:n.2640-550G>T |
| ENST00000426564.6:n.2652-550G>T | |
| ENST00000651177.1:c.2640-550G>T | ENSP00000498372.1:n.2640-550G>T |
| XM_011531469.1:c.2640-550G>T | XP_011529771.1:n.2640-550G>T |
| XM_011531470.1:c.2406-550G>T | XP_011529772.1:n.2406-550G>T |
| XM_017030078.2:c.2655-550G>T | XP_016885567.1:n.2655-550G>T |