Linked Data
ClinVar Variation Id:
1638074
ClinVar RCV Id:
RCV002133834
dbSNP Id:
rs2147265150
MyVariant Identifiers:
chr19:g.11230846T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120170T>C , CM000681.2:g.11120170T>C | GRCh38 |
| NC_000019.9:g.11230846T>C , CM000681.1:g.11230846T>C | GRCh37 |
| NC_000019.8:g.11091846T>C | NCBI36 |
| NG_009060.1:g.35790T>C , LRG_274:g.35790T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2182T>C | ENSP00000252444.6:p.Leu728= | |
| ENST00000559340.2:c.1784T>C | ENSP00000453696.2:p.Val595Ala | |
| ENST00000560467.2:c.1804T>C | ENSP00000453513.2:p.Leu602= | |
| ENST00000558518.6:c.1924T>C MANE Select | ENSP00000454071.1:p.Leu642= | |
| ENST00000252444.9:c.2178T>C | ||
| ENST00000455727.6:c.1420T>C | ENSP00000397829.2:p.Leu474= | |
| ENST00000535915.5:c.1801T>C | ENSP00000440520.1:p.Leu601= | |
| ENST00000545707.5:c.1543T>C | ENSP00000437639.1:p.Leu515= | |
| ENST00000557933.5:c.1924T>C | ENSP00000453557.1:p.Leu642= | |
| ENST00000558013.5:c.1924T>C | ENSP00000453346.1:p.Leu642= | |
| ENST00000558518.5:c.1924T>C | ENSP00000454071.1:p.Leu642= | |
| ENST00000559340.1:c.505T>C | ||
| NM_000527.4:c.1924T>C , LRG_274t1:c.1924T>C | NP_000518.1:p.Leu642= | |
| NM_001195798.1:c.1924T>C | NP_001182727.1:p.Leu642= | |
| NM_001195799.1:c.1801T>C | NP_001182728.1:p.Leu601= | |
| NM_001195800.1:c.1420T>C | NP_001182729.1:p.Leu474= | |
| NM_001195803.1:c.1543T>C | NP_001182732.1:p.Leu515= | |
| XM_011528010.1:c.1924T>C | XP_011526312.1:p.Leu642= | |
| XM_011528011.1:c.1543T>C | XP_011526313.1:p.Leu515= | |
| XR_244074.2:n.1934T>C | ||
| XM_011528010.2:c.1924T>C | XP_011526312.1:p.Leu642= | |
| XR_001753685.2:n.2041T>C | ||
| XR_001753686.2:n.1901T>C | ||
| NM_000527.5:c.1924T>C MANE Select | NP_000518.1:p.Leu642= | |
| NM_001195798.2:c.1924T>C | NP_001182727.1:p.Leu642= | |
| NM_001195799.2:c.1801T>C | NP_001182728.1:p.Leu601= | |
| NM_001195800.2:c.1420T>C | NP_001182729.1:p.Leu474= | |
| NM_001195803.2:c.1543T>C | NP_001182732.1:p.Leu515= |