Linked Data
dbSNP Id:
rs765537649
ExAC:
X:140983050 G / A
gnomAD v2:
X-140983050-G-A
gnomAD v3:
X-141895264-G-A
gnomAD v4:
X-141895264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895264G>A , CM000685.2:g.141895264G>A | GRCh38 |
| NC_000023.10:g.140983050G>A , CM000685.1:g.140983050G>A | GRCh37 |
| NC_000023.9:g.140810716G>A | NCBI36 |
| NG_013272.1:g.61949G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298296.1:c.910-5G>A MANE Select | ENSP00000298296.1:n.910-5G>A | |
| ENST00000443323.2:c.-118-1167G>A | ENSP00000438254.1:n.-118-1167G>A | |
| ENST00000483584.5:n.150-5G>A | ||
| ENST00000544766.5:c.-378-5G>A | ENSP00000440444.1:n.-378-5G>A | |
| NM_138702.1:c.910-5G>A MANE Select | NP_619647.1:n.910-5G>A | |
| NM_177456.2:c.-378-5G>A | NP_803251.1:n.-378-5G>A | |
| XM_011531267.1:c.-306G>A | XP_011529569.1:n.-306G>A | |
| XM_011531267.3:c.-306G>A | XP_011529569.1:n.-306G>A | |
| XM_017029265.2:c.-378-5G>A | XP_016884754.1:n.-378-5G>A |