Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12846203T>A , CM000686.2:g.12846203T>A | GRCh38 |
| NC_000024.9:g.14958128T>A , CM000686.1:g.14958128T>A | GRCh37 |
| NC_000024.8:g.13467522T>A | NCBI36 |
| NG_008311.1:g.149969T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.6569-130T>A | ENSP00000498372.1:n.6569-130T>A | |
| ENST00000338981.7:c.6569-130T>A MANE Select | ENSP00000342812.3:n.6569-130T>A | |
| ENST00000426564.6:n.6596-130T>A | ||
| NM_004654.3:c.6569-130T>A | NP_004645.2:n.6569-130T>A | |
| XM_011531469.1:c.6569-130T>A | XP_011529771.1:n.6569-130T>A | |
| XM_011531470.1:c.6335-130T>A | XP_011529772.1:n.6335-130T>A | |
| XM_017030078.2:c.6584-130T>A | XP_016885567.1:n.6584-130T>A | |
| NM_004654.4:c.6569-130T>A MANE Select | NP_004645.2:n.6569-130T>A |