Linked Data
ClinVar Variation Id:
1104569
ClinVar RCV Id:
RCV001428643
dbSNP Id:
rs765014324
ExAC:
19:1399010 G / A
gnomAD v2:
19-1399010-G-A
gnomAD v4:
19-1399011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399011G>A , CM000681.2:g.1399011G>A | GRCh38 |
| NC_000019.9:g.1399010G>A , CM000681.1:g.1399010G>A | GRCh37 |
| NC_000019.8:g.1350010G>A | NCBI36 |
| NG_009785.1:g.7543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.475C>T MANE Select | ENSP00000252288.1:p.Leu159= | |
| ENST00000447102.8:c.475C>T | ENSP00000403536.2:p.Leu159= | |
| ENST00000591788.3:c.158C>T | ||
| ENST00000640164.1:n.308C>T | ||
| ENST00000640762.1:c.406C>T | ENSP00000492031.1:p.Leu136= | |
| ENST00000252288.6:c.475C>T | ENSP00000252288.1:p.Leu159= | |
| ENST00000447102.7:c.475C>T | ENSP00000403536.2:p.Leu159= | |
| ENST00000591788.2:c.160C>T | ENSP00000466341.2:p.Leu54= | |
| NM_000156.5:c.475C>T | NP_000147.1:p.Leu159= | |
| NM_138924.2:c.475C>T | NP_620279.1:p.Leu159= | |
| NM_000156.6:c.475C>T MANE Select | NP_000147.1:p.Leu159= | |
| NM_138924.3:c.475C>T | NP_620279.1:p.Leu159= |