Linked Data
ClinVar Variation Id:
1897201
ClinVar RCV Id:
RCV002572169
dbSNP Id:
rs1456932401
gnomAD v2:
2-174228014-C-A
gnomAD v4:
2-173363286-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.173363286C>A , CM000664.2:g.173363286C>A | GRCh38 |
| NC_000002.11:g.174228014C>A , CM000664.1:g.174228014C>A | GRCh37 |
| NC_000002.10:g.173936260C>A | NCBI36 |
| NG_047202.1:g.14270C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695901.1:c.208C>A | ENSP00000512251.1:p.Leu70Ile | |
| ENST00000695911.1:c.61C>A | ENSP00000512262.1:p.Leu21Ile | |
| ENST00000695912.1:c.442C>A | ENSP00000512263.1:p.Leu148Ile | |
| ENST00000695913.1:c.208C>A | ENSP00000512264.1:p.Leu70Ile | |
| ENST00000695914.1:c.205C>A | ENSP00000512265.1:p.Leu69Ile | |
| ENST00000306721.8:c.445C>A MANE Select | ENSP00000306968.3:p.Leu149Ile | |
| ENST00000306721.7:c.445C>A | ENSP00000306968.3:p.Leu149Ile | |
| ENST00000347703.7:c.208C>A | ENSP00000272789.4:p.Leu70Ile | |
| ENST00000410019.3:c.82C>A | ENSP00000386833.3:p.Leu28Ile | |
| ENST00000410101.7:c.313C>A | ENSP00000386656.3:p.Leu105Ile | |
| ENST00000435616.5:c.*186C>A | ENSP00000390470.1:n.*186C>A | |
| ENST00000467411.5:n.279C>A | ||
| ENST00000468359.1:n.392C>A | ||
| ENST00000496441.5:n.300C>A | ||
| NM_031942.4:c.445C>A | NP_114148.3:p.Leu149Ile | |
| NM_145810.2:c.208C>A | NP_665809.1:p.Leu70Ile | |
| XM_011511957.1:c.364C>A | XP_011510259.1:p.Leu122Ile | |
| XR_923034.1:n.548C>A | ||
| NM_031942.5:c.445C>A MANE Select | NP_114148.3:p.Leu149Ile | |
| NM_145810.3:c.208C>A | NP_665809.1:p.Leu70Ile |