Linked Data
ClinVar Variation Id:
162811
ClinVar RCV Id:
RCV000150221
dbSNP Id:
rs139228801
gnomAD v2:
1-116247829-G-T
gnomAD v3:
1-115705208-G-T
gnomAD v4:
1-115705208-G-T
COSMIC:
COSM3975922
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115705208G>T , CM000663.2:g.115705208G>T | GRCh38 |
| NC_000001.10:g.116247829G>T , CM000663.1:g.116247829G>T | GRCh37 |
| NC_000001.9:g.116049352G>T | NCBI36 |
| NG_008802.1:g.68598C>A , LRG_404:g.68598C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.*295C>A | ENSP00000518226.1:n.*295C>A | |
| ENST00000261448.6:c.923C>A MANE Select | ENSP00000261448.5:p.Pro308Gln | |
| ENST00000261448.5:c.923C>A | ENSP00000261448.5:p.Pro308Gln | |
| NM_001232.3:c.923C>A , LRG_404t1:c.923C>A | NP_001223.2:p.Pro308Gln | |
| NM_001232.4:c.923C>A MANE Select | NP_001223.2:p.Pro308Gln |