Linked Data
ClinVar Variation Id:
542273
dbSNP Id:
rs139167960
ExAC:
16:90103724 G / C
gnomAD v2:
16-90103724-G-C
gnomAD v3:
16-90037316-G-C
gnomAD v4:
16-90037316-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.90037316G>C , CM000678.2:g.90037316G>C | GRCh38 |
| NC_000016.9:g.90103724G>C , CM000678.1:g.90103724G>C | GRCh37 |
| NC_000016.8:g.88631225G>C | NCBI36 |
| NG_046598.1:g.22688G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268699.9:c.841G>C MANE Select | ENSP00000268699.4:p.Asp281His | |
| ENST00000536122.7:c.766G>C | ENSP00000440977.1:p.Asp256His | |
| ENST00000268699.8:c.841G>C | ENSP00000268699.4:p.Asp281His | |
| ENST00000536122.5:c.766G>C | ENSP00000440977.1:p.Asp256His | |
| ENST00000540721.5:n.812G>C | ||
| ENST00000564802.1:n.439G>C | ||
| ENST00000566266.5:c.*801G>C | ENSP00000454343.1:n.*801G>C | |
| ENST00000569399.1:n.476G>C | ||
| ENST00000569558.5:n.1644G>C | ||
| ENST00000620723.4:c.592G>C | ENSP00000482877.1:p.Asp198His | |
| NM_001286205.1:c.592G>C | NP_001273134.1:p.Asp198His | |
| NM_001286208.1:c.265G>C | NP_001273137.1:p.Asp89His | |
| NM_001286209.1:c.766G>C | NP_001273138.1:p.Asp256His | |
| NM_001481.2:c.841G>C | NP_001472.1:p.Asp281His | |
| XM_005256304.3:c.766G>C | XP_005256361.1:p.Asp256His | |
| XM_005256309.3:c.265G>C | XP_005256366.1:p.Asp89His | |
| XM_006721175.2:c.592G>C | XP_006721238.1:p.Asp198His | |
| XM_011522990.1:c.592G>C | XP_011521292.1:p.Asp198His | |
| XM_011522991.1:c.592G>C | XP_011521293.1:p.Asp198His | |
| XM_011522992.1:c.592G>C | XP_011521294.1:p.Asp198His | |
| XM_005256309.4:c.265G>C | XP_005256366.1:p.Asp89His | |
| XM_006721175.3:c.592G>C | XP_006721238.1:p.Asp198His | |
| XM_011522990.2:c.592G>C | XP_011521292.1:p.Asp198His | |
| XM_011522992.2:c.592G>C | XP_011521294.1:p.Asp198His | |
| XM_017023122.1:c.592G>C | XP_016878611.1:p.Asp198His | |
| XM_017023123.1:c.592G>C | XP_016878612.1:p.Asp198His | |
| XM_017023124.1:c.265G>C | XP_016878613.1:p.Asp89His | |
| XM_017023125.1:c.265G>C | XP_016878614.1:p.Asp89His | |
| XM_024450228.1:c.766G>C | XP_024305996.1:p.Asp256His | |
| NM_001481.3:c.841G>C MANE Select | NP_001472.1:p.Asp281His | |
| NM_001286205.2:c.592G>C | NP_001273134.1:p.Asp198His | |
| NM_001286208.2:c.265G>C | NP_001273137.1:p.Asp89His | |
| NM_001286209.2:c.766G>C | NP_001273138.1:p.Asp256His |