Linked Data
ClinVar Variation Id:
188955
dbSNP Id:
rs370129081
ExAC:
11:6415746 G / A
gnomAD v2:
11-6415746-G-A
gnomAD v3:
11-6394516-G-A
gnomAD v4:
11-6394516-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394516G>A , CM000673.2:g.6394516G>A | GRCh38 |
| NC_000011.9:g.6415746G>A , CM000673.1:g.6415746G>A | GRCh37 |
| NC_000011.8:g.6372322G>A | NCBI36 |
| NG_011780.1:g.9092G>A | |
| NG_029615.1:g.29899C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342245.9:c.1805G>A MANE Select | ENSP00000340409.4:p.Arg602His | |
| ENST00000342245.8:c.1805G>A | ENSP00000340409.4:p.Arg602His | |
| ENST00000526280.1:c.862G>A | ||
| ENST00000527275.5:c.1802G>A | ENSP00000435350.1:p.Arg601His | |
| ENST00000531303.5:c.*656G>A | ENSP00000432625.1:n.*656G>A | |
| ENST00000533123.5:c.*532G>A | ENSP00000435950.1:n.*532G>A | |
| ENST00000534405.5:c.*636G>A | ENSP00000434353.1:n.*636G>A | |
| NM_000543.4:c.1805G>A | NP_000534.3:p.Arg602His | |
| NM_001007593.2:c.1802G>A | NP_001007594.2:p.Arg601His | |
| XM_005253075.3:c.*298G>A | XP_005253132.1:n.*298G>A | |
| XM_011520303.1:c.1673G>A | XP_011518605.1:p.Arg558His | |
| XM_011520304.1:c.*298G>A | XP_011518606.1:n.*298G>A | |
| NM_001318087.1:c.*298G>A | NP_001305016.1:n.*298G>A | |
| NM_001318088.1:c.884G>A | NP_001305017.1:p.Arg295His | |
| NM_001365135.1:c.1673G>A | NP_001352064.1:p.Arg558His | |
| NR_027400.2:n.1818G>A | ||
| NR_134502.1:n.1357G>A | ||
| XM_011520304.2:c.*298G>A | XP_011518606.1:n.*298G>A | |
| XR_001747940.2:n.1990G>A | ||
| XR_002957158.1:n.2172G>A | ||
| NM_000543.5:c.1805G>A MANE Select | NP_000534.3:p.Arg602His | |
| NM_001007593.3:c.1802G>A | NP_001007594.2:p.Arg601His | |
| NM_001318087.2:c.*298G>A | NP_001305016.1:n.*298G>A | |
| NM_001318088.2:c.884G>A | NP_001305017.1:p.Arg295His | |
| NM_001365135.2:c.1673G>A | NP_001352064.1:p.Arg558His | |
| NR_027400.3:n.1758G>A | ||
| NR_134502.2:n.1297G>A |