Linked Data
dbSNP Id:
rs779159824
ExAC:
1:12025634 T / C
gnomAD v2:
1-12025634-T-C
gnomAD v3:
1-11965577-T-C
gnomAD v4:
1-11965577-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965577T>C , CM000663.2:g.11965577T>C | GRCh38 |
| NC_000001.10:g.12025634T>C , CM000663.1:g.12025634T>C | GRCh37 |
| NC_000001.9:g.11948221T>C | NCBI36 |
| NG_008159.1:g.35889T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1568T>C MANE Select | ENSP00000196061.4:p.Val523Ala | |
| ENST00000196061.4:c.1568T>C | ENSP00000196061.4:p.Val523Ala | |
| ENST00000470133.1:n.182T>C | ||
| ENST00000491536.5:n.196T>C | ||
| NM_000302.3:c.1568T>C | NP_000293.2:p.Val523Ala | |
| NM_001316320.1:c.1709T>C | NP_001303249.1:p.Val570Ala | |
| XM_011541594.1:c.1649T>C | XP_011539896.1:p.Val550Ala | |
| XM_024447707.1:c.902T>C | XP_024303475.1:p.Val301Ala | |
| NM_000302.4:c.1568T>C MANE Select | NP_000293.2:p.Val523Ala | |
| NM_001316320.2:c.1709T>C | NP_001303249.1:p.Val570Ala |