gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14819402C>A , CM000672.2:g.14819402C>A | GRCh38 |
| NC_000010.10:g.14861401C>A , CM000672.1:g.14861401C>A | GRCh37 |
| NC_000010.9:g.14901407C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465530.2:c.*578G>T MANE Select | ENSP00000419395.1:n.*578G>T | |
| ENST00000378442.5:c.*578G>T | ENSP00000367703.1:n.*578G>T | |
| NM_001029954.2:c.*578G>T | NP_001025125.2:n.*578G>T | |
| XM_011519488.1:c.*578G>T | XP_011517790.1:n.*578G>T | |
| XM_011519489.1:c.*755G>T | XP_011517791.1:n.*755G>T | |
| XM_011519488.2:c.*578G>T | XP_011517790.1:n.*578G>T | |
| NM_001029954.3:c.*578G>T MANE Select | NP_001025125.2:n.*578G>T |