Linked Data
ClinVar Variation Id:
3072636
ClinVar RCV Id:
RCV004013658
dbSNP Id:
rs758493253
ExAC:
19:11222310 C / T
gnomAD v2:
19-11222310-C-T
gnomAD v4:
19-11111634-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111634C>T , CM000681.2:g.11111634C>T | GRCh38 |
| NC_000019.9:g.11222310C>T , CM000681.1:g.11222310C>T | GRCh37 |
| NC_000019.8:g.11083310C>T | NCBI36 |
| NG_009060.1:g.27254C>T , LRG_274:g.27254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1439C>T | ENSP00000252444.6:p.Ala480Val | |
| ENST00000559340.2:c.1181C>T | ENSP00000453696.2:p.Ala394Val | |
| ENST00000560467.2:c.1061C>T | ENSP00000453513.2:p.Ala354Val | |
| ENST00000558518.6:c.1181C>T MANE Select | ENSP00000454071.1:p.Ala394Val | |
| ENST00000252444.9:c.1435C>T | ||
| ENST00000455727.6:c.677C>T | ENSP00000397829.2:p.Ala226Val | |
| ENST00000535915.5:c.1058C>T | ENSP00000440520.1:p.Ala353Val | |
| ENST00000545707.5:c.800C>T | ENSP00000437639.1:p.Ala267Val | |
| ENST00000557933.5:c.1181C>T | ENSP00000453557.1:p.Ala394Val | |
| ENST00000558013.5:c.1181C>T | ENSP00000453346.1:p.Ala394Val | |
| ENST00000558518.5:c.1181C>T | ENSP00000454071.1:p.Ala394Val | |
| ENST00000560173.1:n.180C>T | ||
| ENST00000560467.1:c.661C>T | ||
| NM_000527.4:c.1181C>T , LRG_274t1:c.1181C>T | NP_000518.1:p.Ala394Val | |
| NM_001195798.1:c.1181C>T | NP_001182727.1:p.Ala394Val | |
| NM_001195799.1:c.1058C>T | NP_001182728.1:p.Ala353Val | |
| NM_001195800.1:c.677C>T | NP_001182729.1:p.Ala226Val | |
| NM_001195803.1:c.800C>T | NP_001182732.1:p.Ala267Val | |
| XM_011528010.1:c.1181C>T | XP_011526312.1:p.Ala394Val | |
| XM_011528011.1:c.800C>T | XP_011526313.1:p.Ala267Val | |
| XR_244074.2:n.1331C>T | ||
| XM_011528010.2:c.1181C>T | XP_011526312.1:p.Ala394Val | |
| XR_001753685.2:n.1298C>T | ||
| XR_001753686.2:n.1298C>T | ||
| NM_000527.5:c.1181C>T MANE Select | NP_000518.1:p.Ala394Val | |
| NM_001195798.2:c.1181C>T | NP_001182727.1:p.Ala394Val | |
| NM_001195799.2:c.1058C>T | NP_001182728.1:p.Ala353Val | |
| NM_001195800.2:c.677C>T | NP_001182729.1:p.Ala226Val | |
| NM_001195803.2:c.800C>T | NP_001182732.1:p.Ala267Val |