Linked Data
ClinVar Variation Id:
3095398
ClinVar RCV Id:
RCV004386716
dbSNP Id:
rs201858426
ExAC:
1:152276932 C / T
gnomAD v2:
1-152276932-C-T
gnomAD v3:
1-152304456-C-T
gnomAD v4:
1-152304456-C-T
COSMIC:
COSM6121300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304456C>T , CM000663.2:g.152304456C>T | GRCh38 |
| NC_000001.10:g.152276932C>T , CM000663.1:g.152276932C>T | GRCh37 |
| NC_000001.9:g.150543556C>T | NCBI36 |
| NG_016190.1:g.25748G>A , LRG_1028:g.25748G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10430G>A MANE Select | ENSP00000357789.1:p.Arg3477His | |
| ENST00000368799.1:c.10430G>A | ENSP00000357789.1:p.Arg3477His | |
| NM_002016.1:c.10430G>A , LRG_1028t1:c.10430G>A | NP_002007.1:p.Arg3477His | |
| XM_011509329.1:c.9109-623G>A | XP_011507631.1:n.9109-623G>A | |
| NM_002016.2:c.10430G>A MANE Select | NP_002007.1:p.Arg3477His |