Linked Data
dbSNP Id:
rs778458134
ExAC:
X:19377763 G / C
gnomAD v2:
X-19377763-G-C
gnomAD v4:
X-19359645-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359645G>C , CM000685.2:g.19359645G>C | GRCh38 |
| NC_000023.10:g.19377763G>C , CM000685.1:g.19377763G>C | GRCh37 |
| NC_000023.9:g.19287684G>C | NCBI36 |
| NG_016781.1:g.20753G>C | |
| NG_021184.1:g.160617C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.1186G>C | ENSP00000348062.6:p.Val396Leu | |
| ENST00000379805.4:c.*857G>C | ENSP00000369133.3:n.*857G>C | |
| ENST00000417819.6:c.1249G>C | ENSP00000404616.2:p.Val417Leu | |
| ENST00000423505.6:c.1279G>C | ENSP00000406473.2:p.Val427Leu | |
| ENST00000481733.2:n.960G>C | ||
| ENST00000696704.1:c.*497G>C | ENSP00000512823.1:n.*497G>C | |
| ENST00000696705.1:c.*620G>C | ENSP00000512824.1:n.*620G>C | |
| ENST00000422285.7:c.1165G>C MANE Select | ENSP00000394382.2:p.Val389Leu | |
| ENST00000379804.1:c.322G>C | ENSP00000369132.1:p.Val108Leu | |
| ENST00000379806.9:c.1279G>C | ENSP00000369134.5:p.Val427Leu | |
| ENST00000422285.6:c.1165G>C | ENSP00000394382.2:p.Val389Leu | |
| ENST00000478795.1:n.604G>C | ||
| ENST00000540249.5:c.1072G>C | ENSP00000440761.1:p.Val358Leu | |
| ENST00000545074.5:c.1186G>C | ENSP00000438550.1:p.Val396Leu | |
| NM_000284.3:c.1165G>C | NP_000275.1:p.Val389Leu | |
| NM_001173454.1:c.1279G>C | NP_001166925.1:p.Val427Leu | |
| NM_001173455.1:c.1186G>C | NP_001166926.1:p.Val396Leu | |
| NM_001173456.1:c.1072G>C | NP_001166927.1:p.Val358Leu | |
| XM_011545531.1:c.1300G>C | XP_011543833.1:p.Val434Leu | |
| XM_011545532.1:c.1207G>C | XP_011543834.1:p.Val403Leu | |
| XM_017029574.2:c.1186G>C | XP_016885063.1:p.Val396Leu | |
| NM_000284.4:c.1165G>C MANE Select | NP_000275.1:p.Val389Leu | |
| NM_001173454.2:c.1279G>C | NP_001166925.1:p.Val427Leu | |
| NM_001173455.2:c.1186G>C | NP_001166926.1:p.Val396Leu | |
| NM_001173456.2:c.1072G>C | NP_001166927.1:p.Val358Leu |