Linked Data
ClinVar Variation Id:
2399428
ClinVar RCV Id:
RCV004236148
dbSNP Id:
rs201109452
ExAC:
13:52971586 C / T
gnomAD v2:
13-52971586-C-T
gnomAD v3:
13-52397451-C-T
gnomAD v4:
13-52397451-C-T
COSMIC:
COSM948078
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52397451C>T , CM000675.2:g.52397451C>T | GRCh38 |
| NC_000013.10:g.52971586C>T , CM000675.1:g.52971586C>T | GRCh37 |
| NC_000013.9:g.51869587C>T | NCBI36 |
| NG_047168.1:g.14044G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258613.5:c.802G>A MANE Select | ENSP00000258613.4:p.Val268Ile | |
| ENST00000648254.1:c.802G>A | ENSP00000497520.1:p.Val268Ile | |
| ENST00000258613.4:c.802G>A | ENSP00000258613.4:p.Val268Ile | |
| ENST00000349258.8:c.802G>A | ENSP00000340650.4:p.Val268Ile | |
| NM_018676.3:c.802G>A | NP_061146.1:p.Val268Ile | |
| NM_199263.2:c.802G>A | NP_954872.1:p.Val268Ile | |
| NM_018676.4:c.802G>A MANE Select | NP_061146.1:p.Val268Ile | |
| NM_199263.3:c.802G>A | NP_954872.1:p.Val268Ile |