Linked Data
ClinVar Variation Id:
370411
ClinVar RCV Id:
RCV000409762
dbSNP Id:
rs1057516467
gnomAD v4:
3-120670530-C-T
PubMed:
PMID:23430897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670530C>T , CM000665.2:g.120670530C>T | GRCh38 |
| NC_000003.11:g.120389377C>T , CM000665.1:g.120389377C>T | GRCh37 |
| NC_000003.10:g.121872067C>T | NCBI36 |
| NG_011957.1:g.16952G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.179G>A MANE Select | ENSP00000283871.5:p.Trp60Ter | |
| ENST00000283871.9:c.179G>A | ENSP00000283871.5:p.Trp60Ter | |
| ENST00000466528.5:n.205G>A | ||
| ENST00000476082.2:c.56G>A | ENSP00000419560.2:p.Trp19Ter | |
| ENST00000485313.5:n.287G>A | ||
| ENST00000488183.5:n.437G>A | ||
| NM_000187.3:c.179G>A | NP_000178.2:p.Trp60Ter | |
| XM_005247412.1:c.179G>A | XP_005247469.1:p.Trp60Ter | |
| XM_005247413.1:c.179G>A | XP_005247470.1:p.Trp60Ter | |
| XM_005247414.3:c.179G>A | XP_005247471.1:p.Trp60Ter | |
| XM_011512746.1:c.179G>A | XP_011511048.1:p.Trp60Ter | |
| XM_005247412.2:c.179G>A | XP_005247469.1:p.Trp60Ter | |
| XM_005247413.2:c.179G>A | XP_005247470.1:p.Trp60Ter | |
| XM_005247414.5:c.179G>A | XP_005247471.1:p.Trp60Ter | |
| XM_011512746.2:c.179G>A | XP_011511048.1:p.Trp60Ter | |
| XM_017006277.2:c.-245G>A | XP_016861766.1:n.-245G>A | |
| NM_000187.4:c.179G>A MANE Select | NP_000178.2:p.Trp60Ter |