Linked Data
ClinVar Variation Id:
2737421
ClinVar RCV Id:
RCV003494775
dbSNP Id:
rs1474078454
gnomAD v2:
1-24175150-T-A
gnomAD v3:
1-23848660-T-A
gnomAD v4:
1-23848660-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848660T>A , CM000663.2:g.23848660T>A | GRCh38 |
| NC_000001.10:g.24175150T>A , CM000663.1:g.24175150T>A | GRCh37 |
| NC_000001.9:g.24047737T>A | NCBI36 |
| NG_013346.1:g.24710A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1149A>T MANE Select | ENSP00000363603.3:p.Thr383= | |
| ENST00000374479.3:c.1149A>T | ENSP00000363603.3:p.Thr383= | |
| NM_000147.4:c.1149A>T | NP_000138.2:p.Thr383= | |
| XM_005245821.1:c.774A>T | XP_005245878.1:p.Thr258= | |
| XM_011541167.1:c.516A>T | XP_011539469.1:p.Thr172= | |
| XM_005245821.3:c.774A>T | XP_005245878.1:p.Thr258= | |
| XM_011541167.3:c.516A>T | XP_011539469.1:p.Thr172= | |
| XM_017000905.2:c.846A>T | XP_016856394.1:p.Thr282= | |
| NM_000147.5:c.1149A>T MANE Select | NP_000138.2:p.Thr383= | |
| NR_174379.1:n.1327A>T | ||
| NR_174380.1:n.1376A>T | ||
| NR_174381.1:n.1215A>T | ||
| NR_174382.1:n.1612A>T |