Linked Data
ClinVar Variation Id:
2343541
ClinVar RCV Id:
RCV002926526
dbSNP Id:
rs550176166
ExAC:
1:152277532 C / T
gnomAD v2:
1-152277532-C-T
gnomAD v3:
1-152305056-C-T
gnomAD v4:
1-152305056-C-T
COSMIC:
COSM5733178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152305056C>T , CM000663.2:g.152305056C>T | GRCh38 |
| NC_000001.10:g.152277532C>T , CM000663.1:g.152277532C>T | GRCh37 |
| NC_000001.9:g.150544156C>T | NCBI36 |
| NG_016190.1:g.25148G>A , LRG_1028:g.25148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.9830G>A MANE Select | ENSP00000357789.1:p.Arg3277His | |
| ENST00000368799.1:c.9830G>A | ENSP00000357789.1:p.Arg3277His | |
| NM_002016.1:c.9830G>A , LRG_1028t1:c.9830G>A | NP_002007.1:p.Arg3277His | |
| XM_011509329.1:c.9108+722G>A | XP_011507631.1:n.9108+722G>A | |
| NM_002016.2:c.9830G>A MANE Select | NP_002007.1:p.Arg3277His |