Linked Data
ClinVar Variation Id:
219130
ClinVar RCV Id:
RCV000203505
dbSNP Id:
rs864321633
gnomAD v3:
12-68696839-G-T
gnomAD v4:
12-68696839-G-T
PubMed:
PMID:26411495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68696839G>T , CM000674.2:g.68696839G>T | GRCh38 |
| NC_000012.11:g.69090619G>T , CM000674.1:g.69090619G>T | GRCh37 |
| NC_000012.10:g.67376886G>T | NCBI36 |
| NG_046600.2:g.14889G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229179.9:c.469G>T MANE Select | ENSP00000229179.4:p.Asp157Tyr | |
| ENST00000229179.8:c.469G>T | ENSP00000229179.4:p.Asp157Tyr | |
| ENST00000378905.6:c.16G>T | ENSP00000368185.2:p.Asp6Tyr | |
| ENST00000535333.5:n.523-12G>T | ||
| ENST00000535718.5:c.*12G>T | ENSP00000445567.1:n.*12G>T | |
| ENST00000537598.5:n.535G>T | ||
| ENST00000538549.1:c.169G>T | ENSP00000440116.1:p.Asp57Tyr | |
| ENST00000539906.5:c.382G>T | ENSP00000441448.1:p.Asp128Tyr | |
| ENST00000545140.1:n.445G>T | ||
| NM_020401.2:c.469G>T | NP_065134.1:p.Asp157Tyr | |
| XM_005269037.2:c.469G>T | XP_005269094.1:p.Asp157Tyr | |
| XM_011538576.1:c.382G>T | XP_011536878.1:p.Asp128Tyr | |
| NM_001330192.1:c.382G>T | NP_001317121.1:p.Asp128Tyr | |
| NM_020401.3:c.469G>T | NP_065134.1:p.Asp157Tyr | |
| XM_005269037.4:c.469G>T | XP_005269094.1:p.Asp157Tyr | |
| NM_020401.4:c.469G>T MANE Select | NP_065134.1:p.Asp157Tyr | |
| NM_001330192.2:c.382G>T | NP_001317121.1:p.Asp128Tyr |