Linked Data
ClinVar Variation Id:
683
dbSNP Id:
rs80358195
ExAC:
1:24175161 C / A
gnomAD v2:
1-24175161-C-A
gnomAD v3:
1-23848671-C-A
gnomAD v4:
1-23848671-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848671C>A , CM000663.2:g.23848671C>A | GRCh38 |
| NC_000001.10:g.24175161C>A , CM000663.1:g.24175161C>A | GRCh37 |
| NC_000001.9:g.24047748C>A | NCBI36 |
| NG_013346.1:g.24699G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1138G>T MANE Select | ENSP00000363603.3:p.Glu380Ter | |
| ENST00000374479.3:c.1138G>T | ENSP00000363603.3:p.Glu380Ter | |
| NM_000147.4:c.1138G>T | NP_000138.2:p.Glu380Ter | |
| XM_005245821.1:c.763G>T | XP_005245878.1:p.Glu255Ter | |
| XM_011541167.1:c.505G>T | XP_011539469.1:p.Glu169Ter | |
| XM_005245821.3:c.763G>T | XP_005245878.1:p.Glu255Ter | |
| XM_011541167.3:c.505G>T | XP_011539469.1:p.Glu169Ter | |
| XM_017000905.2:c.835G>T | XP_016856394.1:p.Glu279Ter | |
| NM_000147.5:c.1138G>T MANE Select | NP_000138.2:p.Glu380Ter | |
| NR_174379.1:n.1316G>T | ||
| NR_174380.1:n.1365G>T | ||
| NR_174381.1:n.1204G>T | ||
| NR_174382.1:n.1601G>T |