Linked Data
dbSNP Id:
rs1381797164
gnomAD v2:
20-3893238-G-C
gnomAD v3:
20-3912591-G-C
gnomAD v4:
20-3912591-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3912591G>C , CM000682.2:g.3912591G>C | GRCh38 |
| NC_000020.10:g.3893238G>C , CM000682.1:g.3893238G>C | GRCh37 |
| NC_000020.9:g.3841238G>C | NCBI36 |
| NG_008131.3:g.28753G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.1039G>C MANE Select | ENSP00000477429.2:p.Asp347His | |
| ENST00000316562.9:c.1369G>C | ENSP00000313377.4:p.Asp457His | |
| ENST00000336066.8:c.*380G>C | ENSP00000477229.2:n.*380G>C | |
| ENST00000610179.6:c.1039G>C | ENSP00000477429.2:p.Asp347His | |
| ENST00000643504.2:c.*669G>C | ENSP00000495157.2:n.*669G>C | |
| ENST00000646394.1:c.866G>C | ||
| ENST00000316562.8:c.1369G>C | ENSP00000313377.4:p.Asp457His | |
| ENST00000336066.7:c.*380G>C | ENSP00000477229.1:n.*380G>C | |
| ENST00000464452.1:n.604G>C | ||
| ENST00000495692.5:c.61G>C | ENSP00000476745.1:p.Asp21His | |
| ENST00000497424.5:c.496G>C | ENSP00000417609.1:p.Asp166His | |
| ENST00000610179.5:c.1000G>C | ENSP00000477429.1:p.Asp334His | |
| ENST00000621507.1:c.496G>C | ENSP00000481523.1:p.Asp166His | |
| NM_024960.4:c.496G>C | NP_079236.3:p.Asp166His | |
| NM_153638.2:c.1369G>C | NP_705902.2:p.Asp457His | |
| NM_153640.2:c.496G>C | NP_705904.1:p.Asp166His | |
| XM_005260835.2:c.754G>C | XP_005260892.1:p.Asp252His | |
| XM_005260836.3:c.496G>C | XP_005260893.3:p.Asp166His | |
| XM_006723631.1:c.496G>C | XP_006723694.1:p.Asp166His | |
| XM_011529364.1:c.1235+1761G>C | XP_011527666.1:n.1235+1761G>C | |
| NM_001324191.1:c.496G>C | NP_001311120.1:p.Asp166His | |
| NM_001324193.1:c.61G>C | NP_001311122.1:p.Asp21His | |
| NM_024960.5:c.496G>C | NP_079236.3:p.Asp166His | |
| NM_153638.3:c.1369G>C | NP_705902.2:p.Asp457His | |
| NM_153640.3:c.496G>C | NP_705904.1:p.Asp166His | |
| NR_136715.1:n.1393G>C | ||
| XM_005260835.3:c.754G>C | XP_005260892.1:p.Asp252His | |
| XM_005260836.4:c.496G>C | XP_005260893.3:p.Asp166His | |
| XM_011529364.3:c.1235+1761G>C | XP_011527666.1:n.1235+1761G>C | |
| XM_017028077.2:c.61G>C | XP_016883566.1:p.Asp21His | |
| XM_017028078.2:c.61G>C | XP_016883567.1:p.Asp21His | |
| XM_017028079.2:c.61G>C | XP_016883568.1:p.Asp21His | |
| XM_024452002.1:c.61G>C | XP_024307770.1:p.Asp21His | |
| XR_002958533.1:n.2157G>C | ||
| NM_001324191.2:c.496G>C | NP_001311120.1:p.Asp166His | |
| NM_001324193.2:c.61G>C | NP_001311122.1:p.Asp21His | |
| NM_024960.6:c.496G>C | NP_079236.3:p.Asp166His | |
| NR_136715.2:n.940G>C | ||
| NM_001386393.1:c.1039G>C MANE Select | NP_001373322.1:p.Asp347His | |
| NM_153638.4:c.1369G>C | NP_705902.2:p.Asp457His | |
| NM_153640.4:c.496G>C | NP_705904.1:p.Asp166His |