Linked Data
dbSNP Id:
rs182754597
ExAC:
X:19377884 C / G
gnomAD v2:
X-19377884-C-G
gnomAD v3:
X-19359766-C-G
gnomAD v4:
X-19359766-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359766C>G , CM000685.2:g.19359766C>G | GRCh38 |
| NC_000023.10:g.19377884C>G , CM000685.1:g.19377884C>G | GRCh37 |
| NC_000023.9:g.19287805C>G | NCBI36 |
| NG_016781.1:g.20874C>G | |
| NG_021184.1:g.160496G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.*113C>G | ENSP00000348062.6:n.*113C>G | |
| ENST00000379805.4:c.*978C>G | ENSP00000369133.3:n.*978C>G | |
| ENST00000417819.6:c.*113C>G | ENSP00000404616.2:n.*113C>G | |
| ENST00000423505.6:c.*113C>G | ENSP00000406473.2:n.*113C>G | |
| ENST00000481733.2:n.1081C>G | ||
| ENST00000696704.1:c.*618C>G | ENSP00000512823.1:n.*618C>G | |
| ENST00000696705.1:c.*741C>G | ENSP00000512824.1:n.*741C>G | |
| ENST00000422285.7:c.*113C>G MANE Select | ENSP00000394382.2:n.*113C>G | |
| ENST00000379804.1:c.*113C>G | ENSP00000369132.1:n.*113C>G | |
| ENST00000379806.9:c.*113C>G | ENSP00000369134.5:n.*113C>G | |
| ENST00000422285.6:c.*113C>G | ENSP00000394382.2:n.*113C>G | |
| ENST00000478795.1:n.725C>G | ||
| ENST00000540249.5:c.*113C>G | ENSP00000440761.1:n.*113C>G | |
| ENST00000545074.5:c.*113C>G | ENSP00000438550.1:n.*113C>G | |
| NM_000284.3:c.*113C>G | NP_000275.1:n.*113C>G | |
| NM_001173454.1:c.*113C>G | NP_001166925.1:n.*113C>G | |
| NM_001173455.1:c.*113C>G | NP_001166926.1:n.*113C>G | |
| NM_001173456.1:c.*113C>G | NP_001166927.1:n.*113C>G | |
| XM_011545531.1:c.*113C>G | XP_011543833.1:n.*113C>G | |
| XM_011545532.1:c.*113C>G | XP_011543834.1:n.*113C>G | |
| XM_017029574.2:c.*113C>G | XP_016885063.1:n.*113C>G | |
| NM_000284.4:c.*113C>G MANE Select | NP_000275.1:n.*113C>G | |
| NM_001173454.2:c.*113C>G | NP_001166925.1:n.*113C>G | |
| NM_001173455.2:c.*113C>G | NP_001166926.1:n.*113C>G | |
| NM_001173456.2:c.*113C>G | NP_001166927.1:n.*113C>G |