Linked Data
ClinVar Variation Id:
3074006
ClinVar RCV Id:
RCV004012548
dbSNP Id:
rs150104358
gnomAD v2:
19-11233951-G-C
gnomAD v3:
19-11123275-G-C
gnomAD v4:
19-11123275-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123275G>C , CM000681.2:g.11123275G>C | GRCh38 |
| NC_000019.9:g.11233951G>C , CM000681.1:g.11233951G>C | GRCh37 |
| NC_000019.8:g.11094951G>C | NCBI36 |
| NG_009060.1:g.38895G>C , LRG_274:g.38895G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2500G>C | ENSP00000252444.6:p.Asp834His | |
| ENST00000559340.2:c.*311G>C | ENSP00000453696.2:n.*311G>C | |
| ENST00000560467.2:c.2122G>C | ENSP00000453513.2:p.Asp708His | |
| ENST00000558518.6:c.2242G>C MANE Select | ENSP00000454071.1:p.Asp748His | |
| ENST00000252444.9:c.2496G>C | ||
| ENST00000455727.6:c.1738G>C | ENSP00000397829.2:p.Asp580His | |
| ENST00000535915.5:c.2119G>C | ENSP00000440520.1:p.Asp707His | |
| ENST00000545707.5:c.1708G>C | ENSP00000437639.1:p.Asp570His | |
| ENST00000557933.5:c.2242G>C | ENSP00000453557.1:p.Asp748His | |
| ENST00000558013.5:c.2242G>C | ENSP00000453346.1:p.Asp748His | |
| ENST00000558518.5:c.2242G>C | ENSP00000454071.1:p.Asp748His | |
| NM_000527.4:c.2242G>C , LRG_274t1:c.2242G>C | NP_000518.1:p.Asp748His | |
| NM_001195798.1:c.2242G>C | NP_001182727.1:p.Asp748His | |
| NM_001195799.1:c.2119G>C | NP_001182728.1:p.Asp707His | |
| NM_001195800.1:c.1738G>C | NP_001182729.1:p.Asp580His | |
| NM_001195803.1:c.1708G>C | NP_001182732.1:p.Asp570His | |
| XM_011528010.1:c.2242G>C | XP_011526312.1:p.Asp748His | |
| XM_011528011.1:c.1861G>C | XP_011526313.1:p.Asp621His | |
| XR_244074.2:n.2252G>C | ||
| XM_011528010.2:c.2242G>C | XP_011526312.1:p.Asp748His | |
| XR_001753685.2:n.2576G>C | ||
| XR_001753686.2:n.2219G>C | ||
| NM_000527.5:c.2242G>C MANE Select | NP_000518.1:p.Asp748His | |
| NM_001195798.2:c.2242G>C | NP_001182727.1:p.Asp748His | |
| NM_001195799.2:c.2119G>C | NP_001182728.1:p.Asp707His | |
| NM_001195800.2:c.1738G>C | NP_001182729.1:p.Asp580His | |
| NM_001195803.2:c.1708G>C | NP_001182732.1:p.Asp570His |