gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38319662 (EAS)
Genomes Max Group AF
0.38319662 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.118005492G>A , CM000664.2:g.118005492G>A | GRCh38 |
| NC_000002.11:g.118763068G>A , CM000664.1:g.118763068G>A | GRCh37 |
| NC_000002.10:g.118479538G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376300.7:c.251+1230C>T MANE Select | ENSP00000365477.2:n.251+1230C>T | |
| ENST00000319432.9:c.251+1230C>T | ENSP00000324135.5:n.251+1230C>T | |
| ENST00000376300.6:c.251+1230C>T | ENSP00000365477.2:n.251+1230C>T | |
| NM_019044.4:c.251+1230C>T | NP_061917.3:n.251+1230C>T | |
| XM_006712600.2:c.419+1230C>T | XP_006712663.1:n.419+1230C>T | |
| XM_011511359.1:c.419+1230C>T | XP_011509661.1:n.419+1230C>T | |
| XM_011511360.1:c.419+1230C>T | XP_011509662.1:n.419+1230C>T | |
| XM_011511361.1:c.-121-708C>T | XP_011509663.1:n.-121-708C>T | |
| XM_011511362.1:c.-37+1230C>T | XP_011509664.1:n.-37+1230C>T | |
| XM_011511363.1:c.419+1230C>T | XP_011509665.1:n.419+1230C>T | |
| XM_011511363.2:c.419+1230C>T | XP_011509665.1:n.419+1230C>T | |
| NM_019044.5:c.251+1230C>T MANE Select | NP_061917.3:n.251+1230C>T |