Linked Data
ClinVar Variation Id:
183107
dbSNP Id:
rs730882097
ExAC:
19:11222234 G / A
gnomAD v2:
19-11222234-G-A
gnomAD v4:
19-11111558-G-A
PubMed:
PMID:25647241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111558G>A , CM000681.2:g.11111558G>A | GRCh38 |
| NC_000019.9:g.11222234G>A , CM000681.1:g.11222234G>A | GRCh37 |
| NC_000019.8:g.11083234G>A | NCBI36 |
| NG_009060.1:g.27178G>A , LRG_274:g.27178G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1363G>A | ENSP00000252444.6:p.Val455Met | |
| ENST00000559340.2:c.1105G>A | ENSP00000453696.2:p.Val369Met | |
| ENST00000560467.2:c.985G>A | ENSP00000453513.2:p.Val329Met | |
| ENST00000558518.6:c.1105G>A MANE Select | ENSP00000454071.1:p.Val369Met | |
| ENST00000252444.9:c.1359G>A | ||
| ENST00000455727.6:c.601G>A | ENSP00000397829.2:p.Val201Met | |
| ENST00000535915.5:c.982G>A | ENSP00000440520.1:p.Val328Met | |
| ENST00000545707.5:c.724G>A | ENSP00000437639.1:p.Val242Met | |
| ENST00000557933.5:c.1105G>A | ENSP00000453557.1:p.Val369Met | |
| ENST00000558013.5:c.1105G>A | ENSP00000453346.1:p.Val369Met | |
| ENST00000558518.5:c.1105G>A | ENSP00000454071.1:p.Val369Met | |
| ENST00000560173.1:n.104G>A | ||
| ENST00000560467.1:c.585G>A | ||
| NM_000527.4:c.1105G>A , LRG_274t1:c.1105G>A | NP_000518.1:p.Val369Met | |
| NM_001195798.1:c.1105G>A | NP_001182727.1:p.Val369Met | |
| NM_001195799.1:c.982G>A | NP_001182728.1:p.Val328Met | |
| NM_001195800.1:c.601G>A | NP_001182729.1:p.Val201Met | |
| NM_001195803.1:c.724G>A | NP_001182732.1:p.Val242Met | |
| XM_011528010.1:c.1105G>A | XP_011526312.1:p.Val369Met | |
| XM_011528011.1:c.724G>A | XP_011526313.1:p.Val242Met | |
| XR_244074.2:n.1255G>A | ||
| XM_011528010.2:c.1105G>A | XP_011526312.1:p.Val369Met | |
| XR_001753685.2:n.1222G>A | ||
| XR_001753686.2:n.1222G>A | ||
| NM_000527.5:c.1105G>A MANE Select | NP_000518.1:p.Val369Met | |
| NM_001195798.2:c.1105G>A | NP_001182727.1:p.Val369Met | |
| NM_001195799.2:c.982G>A | NP_001182728.1:p.Val328Met | |
| NM_001195800.2:c.601G>A | NP_001182729.1:p.Val201Met | |
| NM_001195803.2:c.724G>A | NP_001182732.1:p.Val242Met |