Linked Data
ClinVar Variation Id:
701713
dbSNP Id:
rs192697566
ExAC:
7:83036488 G / T
gnomAD v2:
7-83036488-G-T
gnomAD v3:
7-83407172-G-T
gnomAD v4:
7-83407172-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83407172G>T , CM000669.2:g.83407172G>T | GRCh38 |
| NC_000007.13:g.83036488G>T , CM000669.1:g.83036488G>T | GRCh37 |
| NC_000007.12:g.82874424G>T | NCBI36 |
| NG_021242.1:g.246992C>A | |
| NG_021242.2:g.246992C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.558C>A | ENSP00000405052.1:p.Phe186Leu | |
| ENST00000642232.1:c.738C>A | ENSP00000494064.1:p.Phe246Leu | |
| ENST00000643230.2:c.738C>A MANE Select | ENSP00000496491.1:p.Phe246Leu | |
| ENST00000643441.1:n.723C>A | ||
| ENST00000644381.1:n.301C>A | ||
| ENST00000307792.7:c.738C>A | ENSP00000303212.3:p.Phe246Leu | |
| ENST00000427262.5:c.558C>A | ENSP00000405052.1:p.Phe186Leu | |
| NM_001178129.1:c.558C>A | NP_001171600.1:p.Phe186Leu | |
| NM_012431.2:c.738C>A | NP_036563.1:p.Phe246Leu | |
| XM_011516715.1:c.738C>A | XP_011515017.1:p.Phe246Leu | |
| NM_012431.3:c.738C>A MANE Select | NP_036563.1:p.Phe246Leu | |
| NM_001178129.2:c.558C>A | NP_001171600.1:p.Phe186Leu |