Linked Data
dbSNP Id:
rs746658103
ExAC:
19:11224077 C / T
gnomAD v2:
19-11224077-C-T
gnomAD v4:
19-11113401-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113401C>T , CM000681.2:g.11113401C>T | GRCh38 |
| NC_000019.9:g.11224077C>T , CM000681.1:g.11224077C>T | GRCh37 |
| NC_000019.8:g.11085077C>T | NCBI36 |
| NG_009060.1:g.29021C>T , LRG_274:g.29021C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1568C>T | ENSP00000252444.6:p.Ala523Val | |
| ENST00000559340.2:c.1310C>T | ENSP00000453696.2:p.Ala437Val | |
| ENST00000560467.2:c.1190C>T | ENSP00000453513.2:p.Ala397Val | |
| ENST00000558518.6:c.1310C>T MANE Select | ENSP00000454071.1:p.Ala437Val | |
| ENST00000252444.9:c.1564C>T | ||
| ENST00000455727.6:c.806C>T | ENSP00000397829.2:p.Ala269Val | |
| ENST00000535915.5:c.1187C>T | ENSP00000440520.1:p.Ala396Val | |
| ENST00000545707.5:c.929C>T | ENSP00000437639.1:p.Ala310Val | |
| ENST00000557933.5:c.1310C>T | ENSP00000453557.1:p.Ala437Val | |
| ENST00000558013.5:c.1310C>T | ENSP00000453346.1:p.Ala437Val | |
| ENST00000558518.5:c.1310C>T | ENSP00000454071.1:p.Ala437Val | |
| ENST00000559340.1:c.31C>T | ||
| ENST00000560173.1:n.309C>T | ||
| ENST00000560467.1:c.790C>T | ||
| NM_000527.4:c.1310C>T , LRG_274t1:c.1310C>T | NP_000518.1:p.Ala437Val | |
| NM_001195798.1:c.1310C>T | NP_001182727.1:p.Ala437Val | |
| NM_001195799.1:c.1187C>T | NP_001182728.1:p.Ala396Val | |
| NM_001195800.1:c.806C>T | NP_001182729.1:p.Ala269Val | |
| NM_001195803.1:c.929C>T | NP_001182732.1:p.Ala310Val | |
| XM_011528010.1:c.1310C>T | XP_011526312.1:p.Ala437Val | |
| XM_011528011.1:c.929C>T | XP_011526313.1:p.Ala310Val | |
| XR_244074.2:n.1460C>T | ||
| XM_011528010.2:c.1310C>T | XP_011526312.1:p.Ala437Val | |
| XR_001753685.2:n.1427C>T | ||
| XR_001753686.2:n.1427C>T | ||
| NM_000527.5:c.1310C>T MANE Select | NP_000518.1:p.Ala437Val | |
| NM_001195798.2:c.1310C>T | NP_001182727.1:p.Ala437Val | |
| NM_001195799.2:c.1187C>T | NP_001182728.1:p.Ala396Val | |
| NM_001195800.2:c.806C>T | NP_001182729.1:p.Ala269Val | |
| NM_001195803.2:c.929C>T | NP_001182732.1:p.Ala310Val |