Linked Data
ClinVar Variation Id:
2275274
ClinVar RCV Id:
RCV002817862
dbSNP Id:
rs375291235
gnomAD v3:
1-152304997-T-G
gnomAD v4:
1-152304997-T-G
COSMIC:
COSM1252512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304997T>G , CM000663.2:g.152304997T>G | GRCh38 |
| NC_000001.10:g.152277473T>G , CM000663.1:g.152277473T>G | GRCh37 |
| NC_000001.9:g.150544097T>G | NCBI36 |
| NG_016190.1:g.25207A>C , LRG_1028:g.25207A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.9889A>C MANE Select | ENSP00000357789.1:p.Ser3297Arg | |
| ENST00000368799.1:c.9889A>C | ENSP00000357789.1:p.Ser3297Arg | |
| NM_002016.1:c.9889A>C , LRG_1028t1:c.9889A>C | NP_002007.1:p.Ser3297Arg | |
| XM_011509329.1:c.9108+781A>C | XP_011507631.1:n.9108+781A>C | |
| NM_002016.2:c.9889A>C MANE Select | NP_002007.1:p.Ser3297Arg |