Linked Data
dbSNP Id:
rs769160709
ExAC:
12:52827656 C / T
gnomAD v2:
12-52827656-C-T
gnomAD v4:
12-52433872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433872C>T , CM000674.2:g.52433872C>T | GRCh38 |
| NC_000012.11:g.52827656C>T , CM000674.1:g.52827656C>T | GRCh37 |
| NC_000012.10:g.51113923C>T | NCBI36 |
| NG_008403.1:g.5455G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.433G>A MANE Select | ENSP00000252245.5:p.Val145Met | |
| ENST00000252245.5:c.433G>A | ENSP00000252245.5:p.Val145Met | |
| NM_004693.2:c.433G>A | NP_004684.2:p.Val145Met | |
| NM_004693.3:c.433G>A MANE Select | NP_004684.2:p.Val145Met |