Linked Data
dbSNP Id:
rs782443762
ExAC:
X:154182176 T / C
gnomAD v2:
X-154182176-T-C
gnomAD v4:
X-154953901-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154953901T>C , CM000685.2:g.154953901T>C | GRCh38 |
| NC_000023.10:g.154182176T>C , CM000685.1:g.154182176T>C | GRCh37 |
| NC_000023.9:g.153835370T>C | NCBI36 |
| NG_011403.1:g.73823A>G | |
| NG_011403.2:g.73823A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1894A>G MANE Select | ENSP00000353393.4:p.Ile632Val | |
| ENST00000647125.1:c.*1770A>G | ENSP00000496062.1:n.*1770A>G | |
| ENST00000360256.8:c.1894A>G | ENSP00000353393.4:p.Ile632Val | |
| NM_000132.3:c.1894A>G | NP_000123.1:p.Ile632Val | |
| XM_011531126.1:c.1789A>G | XP_011529428.1:p.Ile597Val | |
| NM_000132.4:c.1894A>G MANE Select | NP_000123.1:p.Ile632Val |