Linked Data
ClinVar Variation Id:
2191668
ClinVar RCV Id:
RCV002620718
dbSNP Id:
rs143255118
gnomAD v2:
6-12296269-G-A
gnomAD v3:
6-12296036-G-A
gnomAD v4:
6-12296036-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12296036G>A , CM000668.2:g.12296036G>A | GRCh38 |
| NC_000006.11:g.12296269G>A , CM000668.1:g.12296269G>A | GRCh37 |
| NC_000006.10:g.12404255G>A | NCBI36 |
| NG_016196.1:g.10741G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379375.6:c.608G>A MANE Select | ENSP00000368683.5:p.Arg203His | |
| ENST00000379375.5:c.608G>A | ENSP00000368683.5:p.Arg203His | |
| NM_001168319.1:c.605G>A | NP_001161791.1:p.Arg202His | |
| NM_001955.4:c.608G>A | NP_001946.3:p.Arg203His | |
| XM_011514330.1:c.608G>A | XP_011512632.1:p.Arg203His | |
| XM_011514331.1:c.608G>A | XP_011512633.1:p.Arg203His | |
| XM_011514332.1:c.605G>A | XP_011512634.1:p.Arg202His | |
| XM_011514330.2:c.608G>A | XP_011512632.1:p.Arg203His | |
| XM_011514331.3:c.608G>A | XP_011512633.1:p.Arg203His | |
| XM_011514332.2:c.605G>A | XP_011512634.1:p.Arg202His | |
| XM_017010331.1:c.608G>A | XP_016865820.1:p.Arg203His | |
| NM_001955.5:c.608G>A MANE Select | NP_001946.3:p.Arg203His | |
| NM_001168319.2:c.605G>A | NP_001161791.1:p.Arg202His |