Linked Data
ClinVar Variation Id:
189316
ClinVar RCV Id:
RCV000169736
dbSNP Id:
rs786204832
gnomAD v4:
12-26400166-C-T
PubMed:
PMID:25329695
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26400166C>T , CM000674.2:g.26400166C>T | GRCh38 |
| NC_000012.11:g.26553099C>T , CM000674.1:g.26553099C>T | GRCh37 |
| NC_000012.10:g.26444366C>T | NCBI36 |
| NG_042142.1:g.438033G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381340.8:c.7492G>A MANE Select | ENSP00000370744.3:p.Gly2498Ser | |
| ENST00000381340.7:c.7492G>A | ENSP00000370744.3:p.Gly2498Ser | |
| ENST00000451599.6:c.2320G>A | ENSP00000408287.2:n.2320G>A | |
| NM_002223.2:c.7492G>A | NP_002214.2:p.Gly2498Ser | |
| NM_002223.3:c.7492G>A | NP_002214.2:p.Gly2498Ser | |
| XM_011520645.1:c.6940G>A | XP_011518947.1:p.Gly2314Ser | |
| XM_011520646.1:c.6559G>A | XP_011518948.1:p.Gly2187Ser | |
| XM_017019266.1:c.7552G>A | XP_016874755.1:p.Gly2518Ser | |
| XM_017019267.1:c.7486G>A | XP_016874756.1:p.Gly2496Ser | |
| NM_002223.4:c.7492G>A MANE Select | NP_002214.2:p.Gly2498Ser |