Linked Data
ClinVar Variation Id:
2412161
ClinVar RCV Id:
RCV004242830
dbSNP Id:
rs145824422
ExAC:
11:102562723 C / T
gnomAD v2:
11-102562723-C-T
gnomAD v3:
11-102691992-C-T
gnomAD v4:
11-102691992-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102691992C>T , CM000673.2:g.102691992C>T | GRCh38 |
| NC_000011.9:g.102562723C>T , CM000673.1:g.102562723C>T | GRCh37 |
| NC_000011.8:g.102067933C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260229.5:c.1316G>A MANE Select | ENSP00000260229.4:p.Arg439His | |
| ENST00000260229.4:c.1316G>A | ENSP00000260229.4:p.Arg439His | |
| NM_022122.2:c.1316G>A | NP_071405.2:p.Arg439His | |
| XM_011542948.1:c.1187G>A | XP_011541250.1:p.Arg396His | |
| XM_011542949.1:c.1154G>A | XP_011541251.1:p.Arg385His | |
| XM_011542950.1:c.1001G>A | XP_011541252.1:p.Arg334His | |
| XM_011542948.2:c.1187G>A | XP_011541250.1:p.Arg396His | |
| XM_011542949.2:c.1154G>A | XP_011541251.1:p.Arg385His | |
| XM_011542950.3:c.1001G>A | XP_011541252.1:p.Arg334His | |
| XM_017018120.1:c.1313G>A | XP_016873609.1:p.Arg438His | |
| NM_022122.3:c.1316G>A MANE Select | NP_071405.2:p.Arg439His |