Linked Data
dbSNP Id:
rs773384673
ExAC:
1:202097410 G / A
gnomAD v2:
1-202097410-G-A
gnomAD v4:
1-202128282-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128282G>A , CM000663.2:g.202128282G>A | GRCh38 |
| NC_000001.10:g.202097410G>A , CM000663.1:g.202097410G>A | GRCh37 |
| NC_000001.9:g.200364033G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.753G>A | ||
| ENST00000682545.1:c.*178G>A | ENSP00000508402.1:n.*178G>A | |
| ENST00000682887.1:c.1573G>A | ENSP00000506946.1:n.1573G>A | |
| ENST00000683302.1:c.1103G>A | ENSP00000507885.1:p.Arg368His | |
| ENST00000683557.1:c.*4G>A | ENSP00000508029.1:n.*4G>A | |
| ENST00000367282.6:c.1172G>A MANE Select | ENSP00000356251.4:p.Arg391His | |
| ENST00000367282.5:c.1172G>A | ENSP00000356251.4:p.Arg391His | |
| NM_004767.3:c.1172G>A | NP_004758.3:p.Arg391His | |
| XM_011510158.1:c.611G>A | XP_011508460.1:p.Arg204His | |
| NM_004767.4:c.1172G>A | NP_004758.3:p.Arg391His | |
| XM_011510158.2:c.611G>A | XP_011508460.1:p.Arg204His | |
| NM_004767.5:c.1172G>A MANE Select | NP_004758.3:p.Arg391His |