Linked Data
dbSNP Id:
rs951652874
gnomAD v2:
2-102029494-C-T
gnomAD v3:
2-101413032-C-T
gnomAD v4:
2-101413032-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.101413032C>T , CM000664.2:g.101413032C>T | GRCh38 |
| NC_000002.11:g.102029494C>T , CM000664.1:g.102029494C>T | GRCh37 |
| NC_000002.10:g.101395926C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646893.2:c.940G>A | ENSP00000494249.2:p.Val314Ile | |
| ENST00000428343.6:c.601G>A MANE Select | ENSP00000401536.1:p.Val201Ile | |
| ENST00000646446.1:c.814G>A | ENSP00000494216.1:p.Val272Ile | |
| ENST00000646893.1:c.727G>A | ENSP00000494249.1:p.Val243Ile | |
| ENST00000428343.5:c.601G>A | ENSP00000401536.1:p.Val201Ile | |
| ENST00000481179.5:c.*317G>A | ENSP00000422968.1:n.*317G>A | |
| NM_001145664.1:c.601G>A | NP_001139136.1:p.Val201Ile | |
| XM_011511771.1:c.829G>A | XP_011510073.1:p.Val277Ile | |
| XM_011511772.1:c.814G>A | XP_011510074.1:p.Val272Ile | |
| XM_011511773.1:c.511G>A | XP_011510075.1:p.Val171Ile | |
| XM_011511774.1:c.829G>A | XP_011510076.1:p.Val277Ile | |
| XM_011511775.1:c.829G>A | XP_011510077.1:p.Val277Ile | |
| XM_011511776.1:c.313G>A | XP_011510078.1:p.Val105Ile | |
| XM_011511777.1:c.313G>A | XP_011510079.1:p.Val105Ile | |
| XM_011511778.1:c.313G>A | XP_011510080.1:p.Val105Ile | |
| XM_011511779.1:c.*14G>A | XP_011510081.1:n.*14G>A | |
| XM_011511771.2:c.829G>A | XP_011510073.1:p.Val277Ile | |
| XM_011511777.2:c.313G>A | XP_011510079.1:p.Val105Ile | |
| XM_017004851.1:c.940G>A | XP_016860340.1:p.Val314Ile | |
| XM_017004852.1:c.727G>A | XP_016860341.1:p.Val243Ile | |
| XM_017004853.1:c.940G>A | XP_016860342.1:p.Val314Ile | |
| XM_017004854.1:c.940G>A | XP_016860343.1:p.Val314Ile | |
| XR_001738924.1:n.884G>A | ||
| NM_001145664.2:c.601G>A MANE Select | NP_001139136.2:p.Val201Ile | |
| NM_001367508.1:c.88G>A | NP_001354437.1:p.Val30Ile | |
| NM_001367509.1:c.88G>A | NP_001354438.1:p.Val30Ile | |
| NM_001367510.1:c.88G>A | NP_001354439.1:p.Val30Ile |