Linked Data
dbSNP Id:
rs142748186
ExAC:
12:53045768 G / T
gnomAD v2:
12-53045768-G-T
gnomAD v4:
12-52651984-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651984G>T , CM000674.2:g.52651984G>T | GRCh38 |
| NC_000012.11:g.53045768G>T , CM000674.1:g.53045768G>T | GRCh37 |
| NC_000012.10:g.51332035G>T | NCBI36 |
| NG_008296.1:g.5192C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.159C>A MANE Select | ENSP00000310861.3:p.Phe53Leu | |
| ENST00000309680.3:c.159C>A | ENSP00000310861.3:p.Phe53Leu | |
| NM_000423.2:c.159C>A | NP_000414.2:p.Phe53Leu | |
| NM_000423.3:c.159C>A MANE Select | NP_000414.2:p.Phe53Leu |