Linked Data
dbSNP Id:
rs780869848
ExAC:
13:52971655 C / T
gnomAD v2:
13-52971655-C-T
gnomAD v3:
13-52397520-C-T
gnomAD v4:
13-52397520-C-T
COSMIC:
COSM948079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52397520C>T , CM000675.2:g.52397520C>T | GRCh38 |
| NC_000013.10:g.52971655C>T , CM000675.1:g.52971655C>T | GRCh37 |
| NC_000013.9:g.51869656C>T | NCBI36 |
| NG_047168.1:g.13975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258613.5:c.733G>A MANE Select | ENSP00000258613.4:p.Val245Met | |
| ENST00000648254.1:c.733G>A | ENSP00000497520.1:p.Val245Met | |
| ENST00000258613.4:c.733G>A | ENSP00000258613.4:p.Val245Met | |
| ENST00000349258.8:c.733G>A | ENSP00000340650.4:p.Val245Met | |
| NM_018676.3:c.733G>A | NP_061146.1:p.Val245Met | |
| NM_199263.2:c.733G>A | NP_954872.1:p.Val245Met | |
| NM_018676.4:c.733G>A MANE Select | NP_061146.1:p.Val245Met | |
| NM_199263.3:c.733G>A | NP_954872.1:p.Val245Met |