Linked Data
dbSNP Id:
rs749538711
ExAC:
X:140983293 A / G
gnomAD v2:
X-140983293-A-G
gnomAD v4:
X-141895507-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895507A>G , CM000685.2:g.141895507A>G | GRCh38 |
| NC_000023.10:g.140983293A>G , CM000685.1:g.140983293A>G | GRCh37 |
| NC_000023.9:g.140810959A>G | NCBI36 |
| NG_013272.1:g.62192A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.1071A>G MANE Select | ENSP00000298296.1:p.Glu357= | |
| ENST00000443323.2:c.-118-924A>G | ENSP00000438254.1:n.-118-924A>G | |
| ENST00000483584.5:n.288+100A>G | ||
| ENST00000544766.5:c.-240+100A>G | ENSP00000440444.1:n.-240+100A>G | |
| NM_138702.1:c.1071A>G MANE Select | NP_619647.1:p.Glu357= | |
| NM_177456.2:c.-240+100A>G | NP_803251.1:n.-240+100A>G | |
| XM_011531267.1:c.-163+100A>G | XP_011529569.1:n.-163+100A>G | |
| XM_011531267.3:c.-163+100A>G | XP_011529569.1:n.-163+100A>G | |
| XM_017029265.2:c.-240+100A>G | XP_016884754.1:n.-240+100A>G |