Linked Data
ClinVar Variation Id:
2853650
ClinVar RCV Id:
RCV003742216
MyVariant Identifiers:
chr19:g.11240209C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129533C>T , CM000681.2:g.11129533C>T | GRCh38 |
| NC_000019.9:g.11240209C>T , CM000681.1:g.11240209C>T | GRCh37 |
| NC_000019.8:g.11101209C>T | NCBI36 |
| NG_009060.1:g.45153C>T , LRG_274:g.45153C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2668C>T | ENSP00000252444.6:p.Leu890= | |
| ENST00000559340.2:c.*479C>T | ENSP00000453696.2:n.*479C>T | |
| ENST00000560467.2:c.2290C>T | ENSP00000453513.2:p.Leu764= | |
| ENST00000558518.6:c.2410C>T MANE Select | ENSP00000454071.1:p.Leu804= | |
| ENST00000252444.9:c.2664C>T | ||
| ENST00000455727.6:c.1906C>T | ENSP00000397829.2:p.Leu636= | |
| ENST00000535915.5:c.2287C>T | ENSP00000440520.1:p.Leu763= | |
| ENST00000545707.5:c.1876C>T | ENSP00000437639.1:p.Leu626= | |
| ENST00000557933.5:c.2472C>T | ENSP00000453557.1:p.Ala824= | |
| ENST00000558013.5:c.2410C>T | ENSP00000453346.1:p.Leu804= | |
| ENST00000558518.5:c.2410C>T | ENSP00000454071.1:p.Leu804= | |
| ENST00000560628.1:n.108+1879C>T | ||
| NM_000527.4:c.2410C>T , LRG_274t1:c.2410C>T | NP_000518.1:p.Leu804= | |
| NM_001195798.1:c.2410C>T | NP_001182727.1:p.Leu804= | |
| NM_001195799.1:c.2287C>T | NP_001182728.1:p.Leu763= | |
| NM_001195800.1:c.1906C>T | NP_001182729.1:p.Leu636= | |
| NM_001195803.1:c.1876C>T | NP_001182732.1:p.Leu626= | |
| XM_011528010.1:c.2332C>T | XP_011526312.1:p.Leu778= | |
| XM_011528011.1:c.2029C>T | XP_011526313.1:p.Leu677= | |
| XR_244074.2:n.2420C>T | ||
| XM_011528010.2:c.2332C>T | XP_011526312.1:p.Leu778= | |
| XR_001753685.2:n.2744C>T | ||
| XR_001753686.2:n.2387C>T | ||
| NM_000527.5:c.2410C>T MANE Select | NP_000518.1:p.Leu804= | |
| NM_001195798.2:c.2410C>T | NP_001182727.1:p.Leu804= | |
| NM_001195799.2:c.2287C>T | NP_001182728.1:p.Leu763= | |
| NM_001195800.2:c.1906C>T | NP_001182729.1:p.Leu636= | |
| NM_001195803.2:c.1876C>T | NP_001182732.1:p.Leu626= |