Linked Data
ClinVar Variation Id:
251844
ClinVar RCV Id:
RCV000238303
dbSNP Id:
rs139624145
gnomAD v4:
19-11113620-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113620G>C , CM000681.2:g.11113620G>C | GRCh38 |
| NC_000019.9:g.11224296G>C , CM000681.1:g.11224296G>C | GRCh37 |
| NC_000019.8:g.11085296G>C | NCBI36 |
| NG_009060.1:g.29240G>C , LRG_274:g.29240G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1702G>C | ENSP00000252444.6:p.Asp568His | |
| ENST00000559340.2:c.1444G>C | ENSP00000453696.2:p.Asp482His | |
| ENST00000560467.2:c.1324G>C | ENSP00000453513.2:p.Asp442His | |
| ENST00000558518.6:c.1444G>C MANE Select | ENSP00000454071.1:p.Asp482His | |
| ENST00000252444.9:c.1698G>C | ||
| ENST00000455727.6:c.940G>C | ENSP00000397829.2:p.Asp314His | |
| ENST00000535915.5:c.1321G>C | ENSP00000440520.1:p.Asp441His | |
| ENST00000545707.5:c.1063G>C | ENSP00000437639.1:p.Asp355His | |
| ENST00000557933.5:c.1444G>C | ENSP00000453557.1:p.Asp482His | |
| ENST00000558013.5:c.1444G>C | ENSP00000453346.1:p.Asp482His | |
| ENST00000558518.5:c.1444G>C | ENSP00000454071.1:p.Asp482His | |
| ENST00000559340.1:c.165G>C | ||
| ENST00000560467.1:c.924G>C | ||
| NM_000527.4:c.1444G>C , LRG_274t1:c.1444G>C | NP_000518.1:p.Asp482His | |
| NM_001195798.1:c.1444G>C | NP_001182727.1:p.Asp482His | |
| NM_001195799.1:c.1321G>C | NP_001182728.1:p.Asp441His | |
| NM_001195800.1:c.940G>C | NP_001182729.1:p.Asp314His | |
| NM_001195803.1:c.1063G>C | NP_001182732.1:p.Asp355His | |
| XM_011528010.1:c.1444G>C | XP_011526312.1:p.Asp482His | |
| XM_011528011.1:c.1063G>C | XP_011526313.1:p.Asp355His | |
| XR_244074.2:n.1594G>C | ||
| XM_011528010.2:c.1444G>C | XP_011526312.1:p.Asp482His | |
| XR_001753685.2:n.1561G>C | ||
| XR_001753686.2:n.1561G>C | ||
| NM_000527.5:c.1444G>C MANE Select | NP_000518.1:p.Asp482His | |
| NM_001195798.2:c.1444G>C | NP_001182727.1:p.Asp482His | |
| NM_001195799.2:c.1321G>C | NP_001182728.1:p.Asp441His | |
| NM_001195800.2:c.940G>C | NP_001182729.1:p.Asp314His | |
| NM_001195803.2:c.1063G>C | NP_001182732.1:p.Asp355His |