Linked Data
ClinVar Variation Id:
381727
ClinVar RCV Id:
RCV000438277
dbSNP Id:
rs1057521154
gnomAD v4:
1-16047905-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16047905G>T , CM000663.2:g.16047905G>T | GRCh38 |
| NC_000001.10:g.16374400G>T , CM000663.1:g.16374400G>T | GRCh37 |
| NC_000001.9:g.16246987G>T | NCBI36 |
| NG_013079.1:g.9154G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682338.1:c.359G>T | ENSP00000507062.1:p.Gly120Val | |
| ENST00000682793.1:c.359G>T | ENSP00000506910.1:p.Gly120Val | |
| ENST00000682838.1:c.*156+65G>T | ENSP00000507652.1:n.*156+65G>T | |
| ENST00000683578.1:c.359G>T | ENSP00000507430.1:p.Gly120Val | |
| ENST00000683661.1:n.1894G>T | ||
| ENST00000684324.1:c.359G>T | ENSP00000507937.1:p.Gly120Val | |
| ENST00000684545.1:c.359G>T | ENSP00000506733.1:p.Gly120Val | |
| ENST00000684714.1:c.359G>T | ENSP00000506861.1:p.Gly120Val | |
| ENST00000375679.9:c.359G>T MANE Select | ENSP00000364831.5:p.Gly120Val | |
| ENST00000375679.8:c.359G>T | ENSP00000364831.4:p.Gly120Val | |
| ENST00000619181.4:c.359G>T | ENSP00000483866.1:p.Gly120Val | |
| NM_000085.4:c.359G>T | NP_000076.2:p.Gly120Val | |
| XM_011540619.1:c.200G>T | XP_011538921.1:p.Gly67Val | |
| XM_011540620.1:c.359G>T | XP_011538922.1:p.Gly120Val | |
| NM_000085.5:c.359G>T MANE Select | NP_000076.2:p.Gly120Val |