Linked Data
ClinVar Variation Id:
862119
dbSNP Id:
rs749547712
ExAC:
1:116311065 C / T
gnomAD v2:
1-116311065-C-T
gnomAD v4:
1-115768444-C-T
COSMIC:
COSM4021005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768444C>T , CM000663.2:g.115768444C>T | GRCh38 |
| NC_000001.10:g.116311065C>T , CM000663.1:g.116311065C>T | GRCh37 |
| NC_000001.9:g.116112588C>T | NCBI36 |
| NG_008802.1:g.5362G>A , LRG_404:g.5362G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-179G>A | ENSP00000518226.1:n.-179G>A | |
| ENST00000261448.6:c.98G>A MANE Select | ENSP00000261448.5:p.Arg33Gln | |
| ENST00000261448.5:c.98G>A | ENSP00000261448.5:p.Arg33Gln | |
| NM_001232.3:c.98G>A , LRG_404t1:c.98G>A | NP_001223.2:p.Arg33Gln | |
| NM_001232.4:c.98G>A MANE Select | NP_001223.2:p.Arg33Gln |