gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81074718T>A , CM000670.2:g.81074718T>A | GRCh38 |
| NC_000008.10:g.81986953T>A , CM000670.1:g.81986953T>A | GRCh37 |
| NC_000008.9:g.82149508T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220597.4:c.-233-4548A>T MANE Select | ENSP00000220597.3:n.-233-4548A>T | |
| NM_018440.3:c.-233-4548A>T | NP_060910.3:n.-233-4548A>T | |
| XM_011517564.1:c.-358+36873A>T | XP_011515866.1:n.-358+36873A>T | |
| XR_928792.1:n.477-4548A>T | ||
| XM_017013640.2:c.-175+36873A>T | XP_016869129.1:n.-175+36873A>T | |
| XR_928792.3:n.474-4548A>T | ||
| NM_018440.4:c.-233-4548A>T MANE Select | NP_060910.3:n.-233-4548A>T |