Linked Data
dbSNP Id:
rs776726091
ExAC:
X:140983213 A / C
gnomAD v3:
X-141895427-A-C
gnomAD v4:
X-141895427-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895427A>C , CM000685.2:g.141895427A>C | GRCh38 |
| NC_000023.10:g.140983213A>C , CM000685.1:g.140983213A>C | GRCh37 |
| NC_000023.9:g.140810879A>C | NCBI36 |
| NG_013272.1:g.62112A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.1048+20A>C MANE Select | ENSP00000298296.1:n.1048+20A>C | |
| ENST00000443323.2:c.-118-1004A>C | ENSP00000438254.1:n.-118-1004A>C | |
| ENST00000483584.5:n.288+20A>C | ||
| ENST00000544766.5:c.-240+20A>C | ENSP00000440444.1:n.-240+20A>C | |
| NM_138702.1:c.1048+20A>C MANE Select | NP_619647.1:n.1048+20A>C | |
| NM_177456.2:c.-240+20A>C | NP_803251.1:n.-240+20A>C | |
| XM_011531267.1:c.-163+20A>C | XP_011529569.1:n.-163+20A>C | |
| XM_011531267.3:c.-163+20A>C | XP_011529569.1:n.-163+20A>C | |
| XM_017029265.2:c.-240+20A>C | XP_016884754.1:n.-240+20A>C |