Linked Data
ClinVar Variation Id:
403228
dbSNP Id:
rs701929
ExAC:
1:211846876 A / G
gnomAD v2:
1-211846876-A-G
gnomAD v3:
1-211673534-A-G
gnomAD v4:
1-211673534-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211673534A>G , CM000663.2:g.211673534A>G | GRCh38 |
| NC_000001.10:g.211846876A>G , CM000663.1:g.211846876A>G | GRCh37 |
| NC_000001.9:g.209913499A>G | NCBI36 |
| NG_029112.1:g.7097T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366999.9:c.504T>C MANE Select | ENSP00000355966.4:p.His168= | |
| ENST00000366998.4:c.504T>C | ENSP00000355965.3:p.His168= | |
| ENST00000366999.8:c.504T>C | ENSP00000355966.4:p.His168= | |
| ENST00000540251.5:c.504T>C | ENSP00000440237.2:p.His168= | |
| NM_001204182.1:c.504T>C | NP_001191111.1:p.His168= | |
| NM_001204183.1:c.504T>C | NP_001191112.1:p.His168= | |
| NM_002497.3:c.504T>C | NP_002488.1:p.His168= | |
| XM_005273147.1:c.504T>C | XP_005273204.1:p.His168= | |
| XM_005273147.2:c.504T>C | XP_005273204.1:p.His168= | |
| NM_002497.4:c.504T>C MANE Select | NP_002488.1:p.His168= | |
| NM_001204182.2:c.504T>C | NP_001191111.1:p.His168= | |
| NM_001204183.2:c.504T>C | NP_001191112.1:p.His168= |