Linked Data
ClinVar Variation Id:
183125
dbSNP Id:
rs201971888
ExAC:
19:11227594 G / C
gnomAD v2:
19-11227594-G-C
gnomAD v4:
19-11116918-G-C
ERepo:
CA023571/MONDO:0007750/013
PubMed:
PMID:25647241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116918G>C , CM000681.2:g.11116918G>C | GRCh38 |
| NC_000019.9:g.11227594G>C , CM000681.1:g.11227594G>C | GRCh37 |
| NC_000019.8:g.11088594G>C | NCBI36 |
| NG_009060.1:g.32538G>C , LRG_274:g.32538G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2023G>C | ENSP00000252444.6:p.Asp675His | |
| ENST00000559340.2:c.1705+706G>C | ENSP00000453696.2:n.1705+706G>C | |
| ENST00000560467.2:c.1645G>C | ENSP00000453513.2:p.Asp549His | |
| ENST00000558518.6:c.1765G>C MANE Select | ENSP00000454071.1:p.Asp589His | |
| ENST00000252444.9:c.2019G>C | ||
| ENST00000455727.6:c.1261G>C | ENSP00000397829.2:p.Asp421His | |
| ENST00000535915.5:c.1642G>C | ENSP00000440520.1:p.Asp548His | |
| ENST00000545707.5:c.1384G>C | ENSP00000437639.1:p.Asp462His | |
| ENST00000557933.5:c.1765G>C | ENSP00000453557.1:p.Asp589His | |
| ENST00000558013.5:c.1765G>C | ENSP00000453346.1:p.Asp589His | |
| ENST00000558518.5:c.1765G>C | ENSP00000454071.1:p.Asp589His | |
| ENST00000559340.1:c.426+706G>C | ||
| NM_000527.4:c.1765G>C , LRG_274t1:c.1765G>C | NP_000518.1:p.Asp589His | |
| NM_001195798.1:c.1765G>C | NP_001182727.1:p.Asp589His | |
| NM_001195799.1:c.1642G>C | NP_001182728.1:p.Asp548His | |
| NM_001195800.1:c.1261G>C | NP_001182729.1:p.Asp421His | |
| NM_001195803.1:c.1384G>C | NP_001182732.1:p.Asp462His | |
| XM_011528010.1:c.1765G>C | XP_011526312.1:p.Asp589His | |
| XM_011528011.1:c.1384G>C | XP_011526313.1:p.Asp462His | |
| XR_244074.2:n.1855+706G>C | ||
| XM_011528010.2:c.1765G>C | XP_011526312.1:p.Asp589His | |
| XR_001753685.2:n.1882G>C | ||
| XR_001753686.2:n.1822+706G>C | ||
| NM_000527.5:c.1765G>C MANE Select | NP_000518.1:p.Asp589His | |
| NM_001195798.2:c.1765G>C | NP_001182727.1:p.Asp589His | |
| NM_001195799.2:c.1642G>C | NP_001182728.1:p.Asp548His | |
| NM_001195800.2:c.1261G>C | NP_001182729.1:p.Asp421His | |
| NM_001195803.2:c.1384G>C | NP_001182732.1:p.Asp462His |