Linked Data
ClinVar Variation Id:
1137522
ClinVar RCV Id:
RCV001473529
dbSNP Id:
rs2147286940
MyVariant Identifiers:
chr19:g.11240224C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129548C>T , CM000681.2:g.11129548C>T | GRCh38 |
| NC_000019.9:g.11240224C>T , CM000681.1:g.11240224C>T | GRCh37 |
| NC_000019.8:g.11101224C>T | NCBI36 |
| NG_009060.1:g.45168C>T , LRG_274:g.45168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2683C>T | ENSP00000252444.6:p.Leu895= | |
| ENST00000559340.2:c.*494C>T | ENSP00000453696.2:n.*494C>T | |
| ENST00000560467.2:c.2305C>T | ENSP00000453513.2:p.Leu769= | |
| ENST00000558518.6:c.2425C>T MANE Select | ENSP00000454071.1:p.Leu809= | |
| ENST00000252444.9:c.2679C>T | ||
| ENST00000455727.6:c.1921C>T | ENSP00000397829.2:p.Leu641= | |
| ENST00000535915.5:c.2302C>T | ENSP00000440520.1:p.Leu768= | |
| ENST00000545707.5:c.1891C>T | ENSP00000437639.1:p.Leu631= | |
| ENST00000557933.5:c.2487C>T | ENSP00000453557.1:p.Phe829= | |
| ENST00000558013.5:c.2425C>T | ENSP00000453346.1:p.Leu809= | |
| ENST00000558518.5:c.2425C>T | ENSP00000454071.1:p.Leu809= | |
| ENST00000560628.1:n.108+1894C>T | ||
| NM_000527.4:c.2425C>T , LRG_274t1:c.2425C>T | NP_000518.1:p.Leu809= | |
| NM_001195798.1:c.2425C>T | NP_001182727.1:p.Leu809= | |
| NM_001195799.1:c.2302C>T | NP_001182728.1:p.Leu768= | |
| NM_001195800.1:c.1921C>T | NP_001182729.1:p.Leu641= | |
| NM_001195803.1:c.1891C>T | NP_001182732.1:p.Leu631= | |
| XM_011528010.1:c.2347C>T | XP_011526312.1:p.Leu783= | |
| XM_011528011.1:c.2044C>T | XP_011526313.1:p.Leu682= | |
| XR_244074.2:n.2435C>T | ||
| XM_011528010.2:c.2347C>T | XP_011526312.1:p.Leu783= | |
| XR_001753685.2:n.2759C>T | ||
| XR_001753686.2:n.2402C>T | ||
| NM_000527.5:c.2425C>T MANE Select | NP_000518.1:p.Leu809= | |
| NM_001195798.2:c.2425C>T | NP_001182727.1:p.Leu809= | |
| NM_001195799.2:c.2302C>T | NP_001182728.1:p.Leu768= | |
| NM_001195800.2:c.1921C>T | NP_001182729.1:p.Leu641= | |
| NM_001195803.2:c.1891C>T | NP_001182732.1:p.Leu631= |