Linked Data
ClinVar Variation Id:
3075244
ClinVar RCV Id:
RCV004015770
dbSNP Id:
rs1438784616
gnomAD v2:
19-11238735-G-A
gnomAD v4:
19-11128059-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128059G>A , CM000681.2:g.11128059G>A | GRCh38 |
| NC_000019.9:g.11238735G>A , CM000681.1:g.11238735G>A | GRCh37 |
| NC_000019.8:g.11099735G>A | NCBI36 |
| NG_009060.1:g.43679G>A , LRG_274:g.43679G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2621G>A | ENSP00000252444.6:p.Arg874Lys | |
| ENST00000559340.2:c.*432G>A | ENSP00000453696.2:n.*432G>A | |
| ENST00000560467.2:c.2243G>A | ENSP00000453513.2:p.Arg748Lys | |
| ENST00000558518.6:c.2363G>A MANE Select | ENSP00000454071.1:p.Arg788Lys | |
| ENST00000252444.9:c.2617G>A | ||
| ENST00000455727.6:c.1859G>A | ENSP00000397829.2:p.Arg620Lys | |
| ENST00000535915.5:c.2240G>A | ENSP00000440520.1:p.Arg747Lys | |
| ENST00000545707.5:c.1829G>A | ENSP00000437639.1:p.Arg610Lys | |
| ENST00000557933.5:c.2363G>A | ENSP00000453557.1:p.Arg788Lys | |
| ENST00000558013.5:c.2363G>A | ENSP00000453346.1:p.Arg788Lys | |
| ENST00000558518.5:c.2363G>A | ENSP00000454071.1:p.Arg788Lys | |
| ENST00000560628.1:n.108+405G>A | ||
| NM_000527.4:c.2363G>A , LRG_274t1:c.2363G>A | NP_000518.1:p.Arg788Lys | |
| NM_001195798.1:c.2363G>A | NP_001182727.1:p.Arg788Lys | |
| NM_001195799.1:c.2240G>A | NP_001182728.1:p.Arg747Lys | |
| NM_001195800.1:c.1859G>A | NP_001182729.1:p.Arg620Lys | |
| NM_001195803.1:c.1829G>A | NP_001182732.1:p.Arg610Lys | |
| XM_011528010.1:c.2312-1454G>A | XP_011526312.1:n.2312-1454G>A | |
| XM_011528011.1:c.1982G>A | XP_011526313.1:p.Arg661Lys | |
| XR_244074.2:n.2373G>A | ||
| XM_011528010.2:c.2312-1454G>A | XP_011526312.1:n.2312-1454G>A | |
| XR_001753685.2:n.2697G>A | ||
| XR_001753686.2:n.2340G>A | ||
| NM_000527.5:c.2363G>A MANE Select | NP_000518.1:p.Arg788Lys | |
| NM_001195798.2:c.2363G>A | NP_001182727.1:p.Arg788Lys | |
| NM_001195799.2:c.2240G>A | NP_001182728.1:p.Arg747Lys | |
| NM_001195800.2:c.1859G>A | NP_001182729.1:p.Arg620Lys | |
| NM_001195803.2:c.1829G>A | NP_001182732.1:p.Arg610Lys |