Linked Data
dbSNP Id:
rs765042863
gnomAD v2:
13-52971622-C-T
gnomAD v3:
13-52397487-C-T
gnomAD v4:
13-52397487-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52397487C>T , CM000675.2:g.52397487C>T | GRCh38 |
| NC_000013.10:g.52971622C>T , CM000675.1:g.52971622C>T | GRCh37 |
| NC_000013.9:g.51869623C>T | NCBI36 |
| NG_047168.1:g.14008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258613.5:c.766G>A MANE Select | ENSP00000258613.4:p.Val256Ile | |
| ENST00000648254.1:c.766G>A | ENSP00000497520.1:p.Val256Ile | |
| ENST00000258613.4:c.766G>A | ENSP00000258613.4:p.Val256Ile | |
| ENST00000349258.8:c.766G>A | ENSP00000340650.4:p.Val256Ile | |
| NM_018676.3:c.766G>A | NP_061146.1:p.Val256Ile | |
| NM_199263.2:c.766G>A | NP_954872.1:p.Val256Ile | |
| NM_018676.4:c.766G>A MANE Select | NP_061146.1:p.Val256Ile | |
| NM_199263.3:c.766G>A | NP_954872.1:p.Val256Ile |