Linked Data
ClinVar Variation Id:
704791
dbSNP Id:
rs367882846
ExAC:
19:11240196 C / T
gnomAD v2:
19-11240196-C-T
gnomAD v3:
19-11129520-C-T
gnomAD v4:
19-11129520-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129520C>T , CM000681.2:g.11129520C>T | GRCh38 |
| NC_000019.9:g.11240196C>T , CM000681.1:g.11240196C>T | GRCh37 |
| NC_000019.8:g.11101196C>T | NCBI36 |
| NG_009060.1:g.45140C>T , LRG_274:g.45140C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2655C>T | ENSP00000252444.6:p.Leu885= | |
| ENST00000559340.2:c.*466C>T | ENSP00000453696.2:n.*466C>T | |
| ENST00000560467.2:c.2277C>T | ENSP00000453513.2:p.Leu759= | |
| ENST00000558518.6:c.2397C>T MANE Select | ENSP00000454071.1:p.Leu799= | |
| ENST00000252444.9:c.2651C>T | ||
| ENST00000455727.6:c.1893C>T | ENSP00000397829.2:p.Leu631= | |
| ENST00000535915.5:c.2274C>T | ENSP00000440520.1:p.Leu758= | |
| ENST00000545707.5:c.1863C>T | ENSP00000437639.1:p.Leu621= | |
| ENST00000557933.5:c.2459C>T | ENSP00000453557.1:p.Ser820Leu | |
| ENST00000558013.5:c.2397C>T | ENSP00000453346.1:p.Leu799= | |
| ENST00000558518.5:c.2397C>T | ENSP00000454071.1:p.Leu799= | |
| ENST00000560628.1:n.108+1866C>T | ||
| NM_000527.4:c.2397C>T , LRG_274t1:c.2397C>T | NP_000518.1:p.Leu799= | |
| NM_001195798.1:c.2397C>T | NP_001182727.1:p.Leu799= | |
| NM_001195799.1:c.2274C>T | NP_001182728.1:p.Leu758= | |
| NM_001195800.1:c.1893C>T | NP_001182729.1:p.Leu631= | |
| NM_001195803.1:c.1863C>T | NP_001182732.1:p.Leu621= | |
| XM_011528010.1:c.2319C>T | XP_011526312.1:p.Leu773= | |
| XM_011528011.1:c.2016C>T | XP_011526313.1:p.Leu672= | |
| XR_244074.2:n.2407C>T | ||
| XM_011528010.2:c.2319C>T | XP_011526312.1:p.Leu773= | |
| XR_001753685.2:n.2731C>T | ||
| XR_001753686.2:n.2374C>T | ||
| NM_000527.5:c.2397C>T MANE Select | NP_000518.1:p.Leu799= | |
| NM_001195798.2:c.2397C>T | NP_001182727.1:p.Leu799= | |
| NM_001195799.2:c.2274C>T | NP_001182728.1:p.Leu758= | |
| NM_001195800.2:c.1893C>T | NP_001182729.1:p.Leu631= | |
| NM_001195803.2:c.1863C>T | NP_001182732.1:p.Leu621= |