Linked Data
dbSNP Id:
rs375898081
ExAC:
16:2287557 G / A
gnomAD v2:
16-2287557-G-A
gnomAD v3:
16-2237556-G-A
gnomAD v4:
16-2237556-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2237556G>A , CM000678.2:g.2237556G>A | GRCh38 |
| NC_000016.9:g.2287557G>A , CM000678.1:g.2287557G>A | GRCh37 |
| NC_000016.8:g.2227558G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320700.10:c.498G>A MANE Select | ENSP00000316938.5:p.Leu166= | |
| ENST00000320700.9:c.498G>A | ENSP00000316938.5:p.Leu166= | |
| ENST00000382437.8:c.435G>A | ENSP00000371874.4:p.Leu145= | |
| ENST00000564065.5:c.498G>A | ENSP00000454562.1:p.Leu166= | |
| ENST00000567494.5:c.498G>A | ENSP00000455358.1:p.Leu166= | |
| ENST00000569184.1:c.489G>A | ENSP00000455478.1:p.Leu163= | |
| ENST00000613572.4:c.435G>A | ENSP00000482627.1:p.Leu145= | |
| NM_001301680.1:c.498G>A | NP_001288609.1:p.Leu166= | |
| NM_001374.2:c.498G>A | NP_001365.1:p.Leu166= | |
| XM_011522399.1:c.771G>A | XP_011520701.1:p.Leu257= | |
| XM_011522399.2:c.771G>A | XP_011520701.1:p.Leu257= | |
| NM_001374.3:c.498G>A MANE Select | NP_001365.1:p.Leu166= | |
| NM_001301680.2:c.498G>A | NP_001288609.1:p.Leu166= |