Linked Data
ClinVar Variation Id:
252347
dbSNP Id:
rs879255220
gnomAD v2:
19-11240305-G-A
gnomAD v4:
19-11129629-G-A
PubMed:
PMID:16250003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129629G>A , CM000681.2:g.11129629G>A | GRCh38 |
| NC_000019.9:g.11240305G>A , CM000681.1:g.11240305G>A | GRCh37 |
| NC_000019.8:g.11101305G>A | NCBI36 |
| NG_009060.1:g.45249G>A , LRG_274:g.45249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2764G>A | ENSP00000252444.6:p.Val922Ile | |
| ENST00000559340.2:c.*575G>A | ENSP00000453696.2:n.*575G>A | |
| ENST00000560467.2:c.2386G>A | ENSP00000453513.2:p.Val796Ile | |
| ENST00000558518.6:c.2506G>A MANE Select | ENSP00000454071.1:p.Val836Ile | |
| ENST00000252444.9:c.2760G>A | ||
| ENST00000455727.6:c.2002G>A | ENSP00000397829.2:p.Val668Ile | |
| ENST00000535915.5:c.2383G>A | ENSP00000440520.1:p.Val795Ile | |
| ENST00000545707.5:c.1972G>A | ENSP00000437639.1:p.Val658Ile | |
| ENST00000557933.5:c.2568G>A | ENSP00000453557.1:p.Arg856= | |
| ENST00000558013.5:c.2506G>A | ENSP00000453346.1:p.Val836Ile | |
| ENST00000558518.5:c.2506G>A | ENSP00000454071.1:p.Val836Ile | |
| ENST00000560628.1:n.108+1975G>A | ||
| NM_000527.4:c.2506G>A , LRG_274t1:c.2506G>A | NP_000518.1:p.Val836Ile | |
| NM_001195798.1:c.2506G>A | NP_001182727.1:p.Val836Ile | |
| NM_001195799.1:c.2383G>A | NP_001182728.1:p.Val795Ile | |
| NM_001195800.1:c.2002G>A | NP_001182729.1:p.Val668Ile | |
| NM_001195803.1:c.1972G>A | NP_001182732.1:p.Val658Ile | |
| XM_011528010.1:c.2428G>A | XP_011526312.1:p.Val810Ile | |
| XM_011528011.1:c.2125G>A | XP_011526313.1:p.Val709Ile | |
| XM_011528010.2:c.2428G>A | XP_011526312.1:p.Val810Ile | |
| XR_001753685.2:n.2840G>A | ||
| XR_001753686.2:n.2483G>A | ||
| NM_000527.5:c.2506G>A MANE Select | NP_000518.1:p.Val836Ile | |
| NM_001195798.2:c.2506G>A | NP_001182727.1:p.Val836Ile | |
| NM_001195799.2:c.2383G>A | NP_001182728.1:p.Val795Ile | |
| NM_001195800.2:c.2002G>A | NP_001182729.1:p.Val668Ile | |
| NM_001195803.2:c.1972G>A | NP_001182732.1:p.Val658Ile |