Linked Data
ClinVar Variation Id:
588425
dbSNP Id:
rs755945768
ExAC:
X:19377106 G / A
gnomAD v2:
X-19377106-G-A
gnomAD v4:
X-19358988-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19358988G>A , CM000685.2:g.19358988G>A | GRCh38 |
| NC_000023.10:g.19377106G>A , CM000685.1:g.19377106G>A | GRCh37 |
| NC_000023.9:g.19287027G>A | NCBI36 |
| NG_016781.1:g.20096G>A | |
| NG_021184.1:g.161274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.993G>A | ENSP00000348062.6:p.Met331Ile | |
| ENST00000379805.4:c.*664G>A | ENSP00000369133.3:n.*664G>A | |
| ENST00000417819.6:c.1056G>A | ENSP00000404616.2:p.Met352Ile | |
| ENST00000423505.6:c.1086G>A | ENSP00000406473.2:p.Met362Ile | |
| ENST00000481733.2:n.767G>A | ||
| ENST00000696704.1:c.*304G>A | ENSP00000512823.1:n.*304G>A | |
| ENST00000696705.1:c.*427G>A | ENSP00000512824.1:n.*427G>A | |
| ENST00000422285.7:c.972G>A MANE Select | ENSP00000394382.2:p.Met324Ile | |
| ENST00000379804.1:c.129G>A | ENSP00000369132.1:p.Met43Ile | |
| ENST00000379806.9:c.1086G>A | ENSP00000369134.5:p.Met362Ile | |
| ENST00000422285.6:c.972G>A | ENSP00000394382.2:p.Met324Ile | |
| ENST00000478795.1:n.411G>A | ||
| ENST00000481733.1:n.400G>A | ||
| ENST00000540249.5:c.879G>A | ENSP00000440761.1:p.Met293Ile | |
| ENST00000545074.5:c.993G>A | ENSP00000438550.1:p.Met331Ile | |
| NM_000284.3:c.972G>A | NP_000275.1:p.Met324Ile | |
| NM_001173454.1:c.1086G>A | NP_001166925.1:p.Met362Ile | |
| NM_001173455.1:c.993G>A | NP_001166926.1:p.Met331Ile | |
| NM_001173456.1:c.879G>A | NP_001166927.1:p.Met293Ile | |
| XM_011545531.1:c.1107G>A | XP_011543833.1:p.Met369Ile | |
| XM_011545532.1:c.1014G>A | XP_011543834.1:p.Met338Ile | |
| XM_017029574.2:c.993G>A | XP_016885063.1:p.Met331Ile | |
| NM_000284.4:c.972G>A MANE Select | NP_000275.1:p.Met324Ile | |
| NM_001173454.2:c.1086G>A | NP_001166925.1:p.Met362Ile | |
| NM_001173455.2:c.993G>A | NP_001166926.1:p.Met331Ile | |
| NM_001173456.2:c.879G>A | NP_001166927.1:p.Met293Ile |