Linked Data
dbSNP Id:
rs896429441
gnomAD v2:
3-87309161-C-T
gnomAD v3:
3-87260011-C-T
gnomAD v4:
3-87260011-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87260011C>T , CM000665.2:g.87260011C>T | GRCh38 |
| NC_000003.11:g.87309161C>T , CM000665.1:g.87309161C>T | GRCh37 |
| NC_000003.10:g.87391851C>T | NCBI36 |
| NG_008225.2:g.21577G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.837G>A | ENSP00000342931.3:p.Leu279= | |
| ENST00000350375.7:c.759G>A MANE Select | ENSP00000263781.2:p.Leu253= | |
| ENST00000344265.7:c.837G>A | ENSP00000342931.3:p.Leu279= | |
| ENST00000350375.6:c.759G>A | ENSP00000263781.2:p.Leu253= | |
| ENST00000560656.1:c.533G>A | ENSP00000452610.1:n.533G>A | |
| ENST00000561167.5:c.534G>A | ENSP00000454072.1:p.Leu178= | |
| NM_000306.3:c.759G>A | NP_000297.1:p.Leu253= | |
| NM_001122757.2:c.837G>A | NP_001116229.1:p.Leu279= | |
| NM_000306.4:c.759G>A MANE Select | NP_000297.1:p.Leu253= | |
| NM_001122757.3:c.837G>A | NP_001116229.1:p.Leu279= |