Linked Data
ClinVar Variation Id:
488520
ClinVar RCV Id:
RCV000578355
dbSNP Id:
rs753232669
ExAC:
1:24192083 C / A
gnomAD v2:
1-24192083-C-A
gnomAD v3:
1-23865593-C-A
gnomAD v4:
1-23865593-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23865593C>A , CM000663.2:g.23865593C>A | GRCh38 |
| NC_000001.10:g.24192083C>A , CM000663.1:g.24192083C>A | GRCh37 |
| NC_000001.9:g.24064670C>A | NCBI36 |
| NG_013346.1:g.7777G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.422G>T MANE Select | ENSP00000363603.3:p.Gly141Val | |
| ENST00000374479.3:c.422G>T | ENSP00000363603.3:p.Gly141Val | |
| NM_000147.4:c.422G>T | NP_000138.2:p.Gly141Val | |
| XM_005245821.1:c.47G>T | XP_005245878.1:p.Gly16Val | |
| XM_011541167.1:c.-212G>T | XP_011539469.1:n.-212G>T | |
| XM_005245821.3:c.47G>T | XP_005245878.1:p.Gly16Val | |
| XM_011541167.3:c.-212G>T | XP_011539469.1:n.-212G>T | |
| XM_017000905.2:c.119G>T | XP_016856394.1:p.Gly40Val | |
| NM_000147.5:c.422G>T MANE Select | NP_000138.2:p.Gly141Val | |
| NR_174379.1:n.600G>T | ||
| NR_174380.1:n.649G>T | ||
| NR_174381.1:n.488G>T | ||
| NR_174382.1:n.885G>T |