Linked Data
dbSNP Id:
rs745662451
ExAC:
4:81207513 G / A
gnomAD v2:
4-81207513-G-A
gnomAD v3:
4-80286359-G-A
gnomAD v4:
4-80286359-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286359G>A , CM000666.2:g.80286359G>A | GRCh38 |
| NC_000004.11:g.81207513G>A , CM000666.1:g.81207513G>A | GRCh37 |
| NC_000004.10:g.81426537G>A | NCBI36 |
| NG_029501.1:g.24772G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.494G>A MANE Select | ENSP00000311697.7:p.Arg165His | |
| ENST00000312465.11:c.494G>A | ENSP00000311697.7:p.Arg165His | |
| ENST00000456523.3:c.*18G>A | ENSP00000398353.3:n.*18G>A | |
| ENST00000503413.1:n.443G>A | ||
| ENST00000507780.1:c.342+11347G>A | ENSP00000423903.1:n.342+11347G>A | |
| NM_001291812.1:c.65G>A | NP_001278741.1:p.Arg22His | |
| NM_004464.3:c.494G>A | NP_004455.2:p.Arg165His | |
| NM_033143.2:c.*18G>A | NP_149134.1:n.*18G>A | |
| NM_001291812.2:c.65G>A | NP_001278741.1:p.Arg22His | |
| NM_004464.4:c.494G>A MANE Select | NP_004455.2:p.Arg165His |