Linked Data
ClinVar Variation Id:
2096855
ClinVar RCV Id:
RCV003006212
dbSNP Id:
rs866650556
gnomAD v4:
2-218893240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893240G>A , CM000664.2:g.218893240G>A | GRCh38 |
| NC_000002.11:g.219757962G>A , CM000664.1:g.219757962G>A | GRCh37 |
| NC_000002.10:g.219466206G>A | NCBI36 |
| NG_012179.1:g.17708G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1223G>A MANE Select | ENSP00000258411.3:p.Arg408His | |
| ENST00000258411.7:c.1223G>A | ENSP00000258411.3:p.Arg408His | |
| ENST00000489887.1:n.20G>A | ||
| NM_025216.2:c.1223G>A | NP_079492.2:p.Arg408His | |
| XM_011511928.1:c.1172G>A | XP_011510230.1:p.Arg391His | |
| XM_011511929.1:c.1127G>A | XP_011510231.1:p.Arg376His | |
| XM_011511930.1:c.843G>A | XP_011510232.1:p.Pro281= | |
| XM_011511929.2:c.1127G>A | XP_011510231.1:p.Arg376His | |
| NM_025216.3:c.1223G>A MANE Select | NP_079492.2:p.Arg408His |