Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.59116995T>A , CM000677.2:g.59116995T>A | GRCh38 |
| NC_000015.9:g.59409194T>A , CM000677.1:g.59409194T>A | GRCh37 |
| NC_000015.8:g.57196486T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004701.4:c.834+69T>A MANE Select | NP_004692.1:n.834+69T>A |
| ENST00000288207.7:c.834+69T>A MANE Select | ENSP00000288207.2:n.834+69T>A |
| NM_004701.3:c.834+69T>A | NP_004692.1:n.834+69T>A |
| ENST00000288207.6:c.834+69T>A | ENSP00000288207.2:n.834+69T>A |
| ENST00000559301.1:n.160+69T>A | |
| ENST00000559622.5:c.591+69T>A | ENSP00000453685.1:n.591+69T>A |
| ENST00000621385.1:c.834+69T>A | ENSP00000480809.1:n.834+69T>A |