Linked Data
ClinVar Variation Id:
283576
ClinVar RCV Id:
RCV000281382
dbSNP Id:
rs756581922
ExAC:
3:119087362 C / T
gnomAD v2:
3-119087362-C-T
gnomAD v3:
3-119368515-C-T
gnomAD v4:
3-119368515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119368515C>T , CM000665.2:g.119368515C>T | GRCh38 |
| NC_000003.11:g.119087362C>T , CM000665.1:g.119087362C>T | GRCh37 |
| NC_000003.10:g.120570052C>T | NCBI36 |
| NG_007665.2:g.79143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.347C>T MANE Select | ENSP00000264245.4:p.Thr116Met | |
| ENST00000264245.8:c.347C>T | ENSP00000264245.4:p.Thr116Met | |
| ENST00000482743.1:c.260C>T | ENSP00000418429.1:p.Thr87Met | |
| NM_020754.3:c.347C>T | NP_065805.2:p.Thr116Met | |
| XM_005247671.3:c.254C>T | XP_005247728.1:p.Thr85Met | |
| XM_006713714.2:c.347C>T | XP_006713777.1:p.Thr116Met | |
| XM_006713714.3:c.347C>T | XP_006713777.1:p.Thr116Met | |
| XM_017006955.1:c.-145+3097C>T | XP_016862444.1:n.-145+3097C>T | |
| NM_020754.4:c.347C>T MANE Select | NP_065805.2:p.Thr116Met |