Linked Data
ClinVar Variation Id:
188717
ClinVar RCV Id:
RCV000169012
dbSNP Id:
rs786204422
gnomAD v2:
3-120400948-A-T
gnomAD v3:
3-120682101-A-T
gnomAD v4:
3-120682101-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120682101A>T , CM000665.2:g.120682101A>T | GRCh38 |
| NC_000003.11:g.120400948A>T , CM000665.1:g.120400948A>T | GRCh37 |
| NC_000003.10:g.121883638A>T | NCBI36 |
| NG_011957.1:g.5381T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.11T>A MANE Select | ENSP00000283871.5:p.Leu4Ter | |
| ENST00000283871.9:c.11T>A | ENSP00000283871.5:p.Leu4Ter | |
| ENST00000466528.5:n.37T>A | ||
| ENST00000476082.2:c.-24T>A | ENSP00000419560.2:n.-24T>A | |
| ENST00000480862.1:n.169T>A | ||
| ENST00000485313.5:n.31T>A | ||
| ENST00000488183.5:n.143T>A | ||
| NM_000187.3:c.11T>A | NP_000178.2:p.Leu4Ter | |
| XM_005247412.1:c.11T>A | XP_005247469.1:p.Leu4Ter | |
| XM_005247413.1:c.11T>A | XP_005247470.1:p.Leu4Ter | |
| XM_005247414.3:c.11T>A | XP_005247471.1:p.Leu4Ter | |
| XM_011512746.1:c.11T>A | XP_011511048.1:p.Leu4Ter | |
| XM_005247412.2:c.11T>A | XP_005247469.1:p.Leu4Ter | |
| XM_005247413.2:c.11T>A | XP_005247470.1:p.Leu4Ter | |
| XM_005247414.5:c.11T>A | XP_005247471.1:p.Leu4Ter | |
| XM_011512746.2:c.11T>A | XP_011511048.1:p.Leu4Ter | |
| XM_017006277.2:c.-501T>A | XP_016861766.1:n.-501T>A | |
| NM_000187.4:c.11T>A MANE Select | NP_000178.2:p.Leu4Ter |