Linked Data
ClinVar Variation Id:
2259899
ClinVar RCV Id:
RCV004117445
dbSNP Id:
rs375580665
ExAC:
11:8111682 G / T
gnomAD v2:
11-8111682-G-T
gnomAD v3:
11-8090135-G-T
gnomAD v4:
11-8090135-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090135G>T , CM000673.2:g.8090135G>T | GRCh38 |
| NC_000011.9:g.8111682G>T , CM000673.1:g.8111682G>T | GRCh37 |
| NC_000011.8:g.8068258G>T | NCBI36 |
| NG_029912.1:g.56503G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.157G>T MANE Select | ENSP00000299506.3:p.Asp53Tyr | |
| ENST00000299506.2:c.157G>T | ENSP00000299506.2:p.Asp53Tyr | |
| ENST00000305253.8:c.322G>T | ENSP00000305426.4:p.Asp108Tyr | |
| ENST00000534099.5:c.175G>T | ENSP00000434400.1:p.Asp59Tyr | |
| NM_003320.4:c.322G>T | NP_003311.2:p.Asp108Tyr | |
| NM_177972.2:c.157G>T | NP_813977.1:p.Asp53Tyr | |
| XM_005253109.2:c.283G>T | XP_005253166.1:p.Asp95Tyr | |
| XM_011520344.1:c.193G>T | XP_011518646.1:p.Asp65Tyr | |
| XM_005253109.3:c.283G>T | XP_005253166.1:p.Asp95Tyr | |
| XM_011520344.2:c.193G>T | XP_011518646.1:p.Asp65Tyr | |
| NM_177972.3:c.157G>T MANE Select | NP_813977.1:p.Asp53Tyr | |
| NM_003320.5:c.322G>T | NP_003311.2:p.Asp108Tyr |