Linked Data
ClinVar Variation Id:
296887
ClinVar RCV Id:
RCV000295390
dbSNP Id:
rs199675692
ExAC:
1:24180994 T / A
gnomAD v2:
1-24180994-T-A
gnomAD v3:
1-23854504-T-A
gnomAD v4:
1-23854504-T-A
COSMIC:
COSM3689475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23854504T>A , CM000663.2:g.23854504T>A | GRCh38 |
| NC_000001.10:g.24180994T>A , CM000663.1:g.24180994T>A | GRCh37 |
| NC_000001.9:g.24053581T>A | NCBI36 |
| NG_013346.1:g.18866A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.825A>T MANE Select | ENSP00000363603.3:p.Gly275= | |
| ENST00000374479.3:c.825A>T | ENSP00000363603.3:p.Gly275= | |
| NM_000147.4:c.825A>T | NP_000138.2:p.Gly275= | |
| XM_005245821.1:c.450A>T | XP_005245878.1:p.Gly150= | |
| XM_011541167.1:c.192A>T | XP_011539469.1:p.Gly64= | |
| XM_005245821.3:c.450A>T | XP_005245878.1:p.Gly150= | |
| XM_011541167.3:c.192A>T | XP_011539469.1:p.Gly64= | |
| XM_017000905.2:c.522A>T | XP_016856394.1:p.Gly174= | |
| NM_000147.5:c.825A>T MANE Select | NP_000138.2:p.Gly275= | |
| NR_174379.1:n.1003A>T | ||
| NR_174380.1:n.1052A>T | ||
| NR_174381.1:n.891A>T | ||
| NR_174382.1:n.1288A>T |