Linked Data
ClinVar Variation Id:
2180559
ClinVar RCV Id:
RCV002619312
dbSNP Id:
rs374275150
ExAC:
11:121429494 G / A
gnomAD v2:
11-121429494-G-A
gnomAD v3:
11-121558785-G-A
gnomAD v4:
11-121558785-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121558785G>A , CM000673.2:g.121558785G>A | GRCh38 |
| NC_000011.9:g.121429494G>A , CM000673.1:g.121429494G>A | GRCh37 |
| NC_000011.8:g.120934704G>A | NCBI36 |
| NG_023313.1:g.111534G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.2858G>A MANE Select | ENSP00000260197.6:p.Arg953His | |
| ENST00000260197.11:c.2858G>A | ENSP00000260197.6:p.Arg953His | |
| ENST00000529445.1:n.564G>A | ||
| NM_003105.5:c.2858G>A | NP_003096.1:p.Arg953His | |
| XM_011542963.1:c.2858G>A | XP_011541265.1:p.Arg953His | |
| XM_011542964.1:c.2858G>A | XP_011541266.1:p.Arg953His | |
| XM_011542965.1:c.1319G>A | XP_011541267.1:p.Arg440His | |
| XM_011542966.1:c.218G>A | XP_011541268.1:p.Arg73His | |
| XM_011542963.3:c.2858G>A | XP_011541265.1:p.Arg953His | |
| XM_011542965.3:c.1319G>A | XP_011541267.1:p.Arg440His | |
| XM_017018169.2:c.2546G>A | XP_016873658.1:p.Arg849His | |
| XM_017018170.2:c.2333G>A | XP_016873659.1:p.Arg778His | |
| XM_017018171.1:c.2858G>A | XP_016873660.1:p.Arg953His | |
| XM_017018172.2:c.218G>A | XP_016873661.1:p.Arg73His | |
| NM_003105.6:c.2858G>A MANE Select | NP_003096.2:p.Arg953His |