Linked Data
ClinVar Variation Id:
3207972
ClinVar RCV Id:
RCV004497814
dbSNP Id:
rs1220280898
gnomAD v2:
1-17674536-G-A
gnomAD v3:
1-17348041-G-A
gnomAD v4:
1-17348041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17348041G>A , CM000663.2:g.17348041G>A | GRCh38 |
| NC_000001.10:g.17674536G>A , CM000663.1:g.17674536G>A | GRCh37 |
| NC_000001.9:g.17547123G>A | NCBI36 |
| NG_023261.2:g.44852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.1148G>A MANE Select | ENSP00000364597.4:p.Arg383His | |
| ENST00000468945.1:n.207G>A | ||
| ENST00000487048.5:n.115G>A | ||
| NM_012387.2:c.1148G>A | NP_036519.2:p.Arg383His | |
| XM_011541150.1:c.962G>A | XP_011539452.1:p.Arg321His | |
| XM_011541151.1:c.1148G>A | XP_011539453.1:p.Arg383His | |
| XM_011541152.1:c.611G>A | XP_011539454.1:p.Arg204His | |
| XM_011541153.1:c.1148G>A | XP_011539455.1:p.Arg383His | |
| XM_011541154.1:c.1148G>A | XP_011539456.1:p.Arg383His | |
| XM_011541155.1:c.1148G>A | XP_011539457.1:p.Arg383His | |
| XM_011541156.1:c.1148G>A | XP_011539458.1:p.Arg383His | |
| XM_011541157.1:c.257G>A | XP_011539459.1:p.Arg86His | |
| XM_011541154.2:c.1148G>A | XP_011539456.1:p.Arg383His | |
| NM_012387.3:c.1148G>A MANE Select | NP_036519.2:p.Arg383His |