Linked Data
ClinVar Variation Id:
1134042
dbSNP Id:
rs146242514
ExAC:
X:105277589 T / C
gnomAD v2:
X-105277589-T-C
gnomAD v3:
X-106033598-T-C
gnomAD v4:
X-106033598-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106033598T>C , CM000685.2:g.106033598T>C | GRCh38 |
| NC_000023.10:g.105277589T>C , CM000685.1:g.105277589T>C | GRCh37 |
| NC_000023.9:g.105164245T>C | NCBI36 |
| NG_021252.1:g.10130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372563.2:c.1150A>G MANE Select | ENSP00000361644.1:p.Ile384Val | |
| ENST00000327674.8:c.1150A>G | ENSP00000329374.4:p.Ile384Val | |
| ENST00000372563.1:c.1150A>G | ENSP00000361644.1:p.Ile384Val | |
| NM_000354.5:c.1150A>G | NP_000345.2:p.Ile384Val | |
| XM_006724683.1:c.1180A>G | XP_006724746.1:p.Ile394Val | |
| XM_005262180.4:c.*95A>G | XP_005262237.1:n.*95A>G | |
| XM_006724683.2:c.1180A>G | XP_006724746.1:p.Ile394Val | |
| NM_000354.6:c.1150A>G MANE Select | NP_000345.2:p.Ile384Val |