Linked Data
ClinVar Variation Id:
2145734
ClinVar RCV Id:
RCV003074203
dbSNP Id:
rs374427540
ExAC:
1:24175197 C / T
gnomAD v2:
1-24175197-C-T
gnomAD v3:
1-23848707-C-T
gnomAD v4:
1-23848707-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848707C>T , CM000663.2:g.23848707C>T | GRCh38 |
| NC_000001.10:g.24175197C>T , CM000663.1:g.24175197C>T | GRCh37 |
| NC_000001.9:g.24047784C>T | NCBI36 |
| NG_013346.1:g.24663G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1102G>A MANE Select | ENSP00000363603.3:p.Ala368Thr | |
| ENST00000374479.3:c.1102G>A | ENSP00000363603.3:p.Ala368Thr | |
| NM_000147.4:c.1102G>A | NP_000138.2:p.Ala368Thr | |
| XM_005245821.1:c.727G>A | XP_005245878.1:p.Ala243Thr | |
| XM_011541167.1:c.469G>A | XP_011539469.1:p.Ala157Thr | |
| XM_005245821.3:c.727G>A | XP_005245878.1:p.Ala243Thr | |
| XM_011541167.3:c.469G>A | XP_011539469.1:p.Ala157Thr | |
| XM_017000905.2:c.799G>A | XP_016856394.1:p.Ala267Thr | |
| NM_000147.5:c.1102G>A MANE Select | NP_000138.2:p.Ala368Thr | |
| NR_174379.1:n.1280G>A | ||
| NR_174380.1:n.1329G>A | ||
| NR_174381.1:n.1168G>A | ||
| NR_174382.1:n.1565G>A |