Linked Data
dbSNP Id:
rs1230840619
gnomAD v2:
X-140983434-C-G
gnomAD v3:
X-141895648-C-G
gnomAD v4:
X-141895648-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895648C>G , CM000685.2:g.141895648C>G | GRCh38 |
| NC_000023.10:g.140983434C>G , CM000685.1:g.140983434C>G | GRCh37 |
| NC_000023.9:g.140811100C>G | NCBI36 |
| NG_013272.1:g.62333C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.1123+89C>G MANE Select | ENSP00000298296.1:n.1123+89C>G | |
| ENST00000443323.2:c.-118-783C>G | ENSP00000438254.1:n.-118-783C>G | |
| ENST00000483584.5:n.288+241C>G | ||
| ENST00000544766.5:c.-240+241C>G | ENSP00000440444.1:n.-240+241C>G | |
| NM_138702.1:c.1123+89C>G MANE Select | NP_619647.1:n.1123+89C>G | |
| NM_177456.2:c.-240+241C>G | NP_803251.1:n.-240+241C>G | |
| XM_011531267.1:c.-163+241C>G | XP_011529569.1:n.-163+241C>G | |
| XM_011531267.3:c.-163+241C>G | XP_011529569.1:n.-163+241C>G | |
| XM_017029265.2:c.-240+241C>G | XP_016884754.1:n.-240+241C>G |