Linked Data
ClinVar Variation Id:
1024550
ClinVar RCV Id:
RCV001324750
dbSNP Id:
rs72658869
ExAC:
19:11240194 C / T
gnomAD v2:
19-11240194-C-T
gnomAD v3:
19-11129518-C-T
gnomAD v4:
19-11129518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129518C>T , CM000681.2:g.11129518C>T | GRCh38 |
| NC_000019.9:g.11240194C>T , CM000681.1:g.11240194C>T | GRCh37 |
| NC_000019.8:g.11101194C>T | NCBI36 |
| NG_009060.1:g.45138C>T , LRG_274:g.45138C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2653C>T | ENSP00000252444.6:p.Leu885Phe | |
| ENST00000559340.2:c.*464C>T | ENSP00000453696.2:n.*464C>T | |
| ENST00000560467.2:c.2275C>T | ENSP00000453513.2:p.Leu759Phe | |
| ENST00000558518.6:c.2395C>T MANE Select | ENSP00000454071.1:p.Leu799Phe | |
| ENST00000252444.9:c.2649C>T | ||
| ENST00000455727.6:c.1891C>T | ENSP00000397829.2:p.Leu631Phe | |
| ENST00000535915.5:c.2272C>T | ENSP00000440520.1:p.Leu758Phe | |
| ENST00000545707.5:c.1861C>T | ENSP00000437639.1:p.Leu621Phe | |
| ENST00000557933.5:c.2457C>T | ENSP00000453557.1:p.Ser819= | |
| ENST00000558013.5:c.2395C>T | ENSP00000453346.1:p.Leu799Phe | |
| ENST00000558518.5:c.2395C>T | ENSP00000454071.1:p.Leu799Phe | |
| ENST00000560628.1:n.108+1864C>T | ||
| NM_000527.4:c.2395C>T , LRG_274t1:c.2395C>T | NP_000518.1:p.Leu799Phe | |
| NM_001195798.1:c.2395C>T | NP_001182727.1:p.Leu799Phe | |
| NM_001195799.1:c.2272C>T | NP_001182728.1:p.Leu758Phe | |
| NM_001195800.1:c.1891C>T | NP_001182729.1:p.Leu631Phe | |
| NM_001195803.1:c.1861C>T | NP_001182732.1:p.Leu621Phe | |
| XM_011528010.1:c.2317C>T | XP_011526312.1:p.Leu773Phe | |
| XM_011528011.1:c.2014C>T | XP_011526313.1:p.Leu672Phe | |
| XR_244074.2:n.2405C>T | ||
| XM_011528010.2:c.2317C>T | XP_011526312.1:p.Leu773Phe | |
| XR_001753685.2:n.2729C>T | ||
| XR_001753686.2:n.2372C>T | ||
| NM_000527.5:c.2395C>T MANE Select | NP_000518.1:p.Leu799Phe | |
| NM_001195798.2:c.2395C>T | NP_001182727.1:p.Leu799Phe | |
| NM_001195799.2:c.2272C>T | NP_001182728.1:p.Leu758Phe | |
| NM_001195800.2:c.1891C>T | NP_001182729.1:p.Leu631Phe | |
| NM_001195803.2:c.1861C>T | NP_001182732.1:p.Leu621Phe |