Linked Data
dbSNP Id:
rs368308507
ExAC:
16:31473938 G / A
gnomAD v2:
16-31473938-G-A
gnomAD v3:
16-31462617-G-A
gnomAD v4:
16-31462617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31462617G>A , CM000678.2:g.31462617G>A | GRCh38 |
| NC_000016.9:g.31473938G>A , CM000678.1:g.31473938G>A | GRCh37 |
| NC_000016.8:g.31381439G>A | NCBI36 |
| NG_034258.1:g.9345G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268314.9:c.1070G>A MANE Select | ENSP00000268314.4:p.Arg357His | |
| ENST00000268314.8:c.1070G>A | ENSP00000268314.4:p.Arg357His | |
| ENST00000408912.7:c.1355G>A | ENSP00000386125.3:p.Arg452His | |
| ENST00000457010.6:c.1070G>A | ENSP00000399561.2:p.Arg357His | |
| ENST00000538189.5:c.578G>A | ENSP00000443995.2:p.Arg193His | |
| ENST00000563544.5:c.1070G>A | ENSP00000456877.1:p.Arg357His | |
| ENST00000564900.1:c.213-155G>A | ||
| NM_001105247.1:c.1070G>A | NP_001098717.1:p.Arg357His | |
| NM_001288767.1:c.1355G>A | NP_001275696.1:p.Arg452His | |
| NM_001301820.1:c.1166G>A | NP_001288749.1:p.Arg389His | |
| NM_024742.2:c.1070G>A | NP_079018.1:p.Arg357His | |
| XM_006721091.1:c.1166G>A | XP_006721154.1:p.Arg389His | |
| XM_006721091.3:c.1166G>A | XP_006721154.1:p.Arg389His | |
| XM_024450448.1:c.1166G>A | XP_024306216.1:p.Arg389His | |
| XM_024450449.1:c.1166G>A | XP_024306217.1:p.Arg389His | |
| NM_001105247.2:c.1070G>A MANE Select | NP_001098717.1:p.Arg357His | |
| NM_001288767.2:c.1355G>A | NP_001275696.1:p.Arg452His |