Linked Data
ClinVar Variation Id:
1086404
ClinVar RCV Id:
RCV001404146
dbSNP Id:
rs572244463
ExAC:
20:62127362 G / A
gnomAD v2:
20-62127362-G-A
gnomAD v3:
20-63496009-G-A
gnomAD v4:
20-63496009-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63496009G>A , CM000682.2:g.63496009G>A | GRCh38 |
| NC_000020.10:g.62127362G>A , CM000682.1:g.62127362G>A | GRCh37 |
| NC_000020.9:g.61597806G>A | NCBI36 |
| NG_034083.1:g.8307C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706948.1:c.171C>T | ENSP00000516668.1:p.Ala57= | |
| ENST00000706949.1:c.171C>T | ENSP00000516669.1:p.Ala57= | |
| ENST00000217182.6:c.171C>T MANE Select | ENSP00000217182.3:p.Ala57= | |
| ENST00000298049.12:c.171C>T | ENSP00000298049.8:p.Ala57= | |
| ENST00000642899.1:c.171C>T | ENSP00000493767.1:p.Ala57= | |
| ENST00000645357.1:c.171C>T | ENSP00000494971.1:p.Ala57= | |
| ENST00000645586.1:n.2740C>T | ||
| ENST00000646335.1:c.171C>T | ENSP00000494752.1:p.Ala57= | |
| ENST00000675519.1:c.*43C>T | ENSP00000501859.1:n.*43C>T | |
| ENST00000217182.4:c.171C>T | ENSP00000217182.3:p.Ala57= | |
| ENST00000298049.11:c.171C>T | ENSP00000298049.7:p.Ala57= | |
| NM_001958.3:c.171C>T | NP_001949.1:p.Ala57= | |
| NM_001958.4:c.171C>T | NP_001949.1:p.Ala57= | |
| NM_001958.5:c.171C>T MANE Select | NP_001949.1:p.Ala57= |