Linked Data
ClinVar Variation Id:
10885
dbSNP Id:
rs2229137
ExAC:
X:19375782 A / C
gnomAD v2:
X-19375782-A-C
gnomAD v3:
X-19357664-A-C
gnomAD v4:
X-19357664-A-C
COSMIC:
COSM4989213
ERepo:
CA121220/MONDO:0019169/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19357664A>C , CM000685.2:g.19357664A>C | GRCh38 |
| NC_000023.10:g.19375782A>C , CM000685.1:g.19375782A>C | GRCh37 |
| NC_000023.9:g.19285703A>C | NCBI36 |
| NG_016781.1:g.18772A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.865A>C | ENSP00000348062.6:p.Met289Leu | |
| ENST00000379805.4:c.*536A>C | ENSP00000369133.3:n.*536A>C | |
| ENST00000417819.6:c.928A>C | ENSP00000404616.2:p.Met310Leu | |
| ENST00000423505.6:c.958A>C | ENSP00000406473.2:p.Met320Leu | |
| ENST00000481733.2:n.639A>C | ||
| ENST00000696704.1:c.*176A>C | ENSP00000512823.1:n.*176A>C | |
| ENST00000696705.1:c.*299A>C | ENSP00000512824.1:n.*299A>C | |
| ENST00000422285.7:c.844A>C MANE Select | ENSP00000394382.2:p.Met282Leu | |
| ENST00000379804.1:c.1A>C | ENSP00000369132.1:p.Met1Leu | |
| ENST00000379806.9:c.958A>C | ENSP00000369134.5:p.Met320Leu | |
| ENST00000422285.6:c.844A>C | ENSP00000394382.2:p.Met282Leu | |
| ENST00000478795.1:n.283A>C | ||
| ENST00000481733.1:n.272A>C | ||
| ENST00000540249.5:c.751A>C | ENSP00000440761.1:p.Met251Leu | |
| ENST00000545074.5:c.865A>C | ENSP00000438550.1:p.Met289Leu | |
| NM_000284.3:c.844A>C | NP_000275.1:p.Met282Leu | |
| NM_001173454.1:c.958A>C | NP_001166925.1:p.Met320Leu | |
| NM_001173455.1:c.865A>C | NP_001166926.1:p.Met289Leu | |
| NM_001173456.1:c.751A>C | NP_001166927.1:p.Met251Leu | |
| XM_011545531.1:c.979A>C | XP_011543833.1:p.Met327Leu | |
| XM_011545532.1:c.886A>C | XP_011543834.1:p.Met296Leu | |
| XM_017029574.2:c.865A>C | XP_016885063.1:p.Met289Leu | |
| NM_000284.4:c.844A>C MANE Select | NP_000275.1:p.Met282Leu | |
| NM_001173454.2:c.958A>C | NP_001166925.1:p.Met320Leu | |
| NM_001173455.2:c.865A>C | NP_001166926.1:p.Met289Leu | |
| NM_001173456.2:c.751A>C | NP_001166927.1:p.Met251Leu |