Linked Data
ClinVar Variation Id:
12621
ClinVar RCV Id:
RCV000013456
dbSNP Id:
rs121918681
gnomAD v3:
3-133753607-G-A
gnomAD v4:
3-133753607-G-A
COSMIC:
COSM728349
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133753607G>A , CM000665.2:g.133753607G>A | GRCh38 |
| NC_000003.11:g.133472451G>A , CM000665.1:g.133472451G>A | GRCh37 |
| NC_000003.10:g.134955141G>A | NCBI36 |
| NG_013080.1:g.12475G>A | |
| NG_013080.2:g.96610G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402696.9:c.229G>A (TF) MANE Select | ENSP00000385834.3:p.Asp77Asn | |
| ENST00000402696.7:c.229G>A (TF) | ENSP00000385834.3:p.Asp77Asn | |
| ENST00000414694.5:c.314G>A (TF) | ENSP00000401505.1:p.Gly105Glu | |
| ENST00000460531.5:n.104G>A (TF) | ||
| ENST00000460564.5:n.394G>A (INHCAP) | ||
| ENST00000466911.5:c.97G>A (TF) | ENSP00000417468.1:p.Asp33Asn | |
| ENST00000474287.5:n.342G>A (TF) | ||
| ENST00000475382.5:n.321G>A (TF) | ||
| ENST00000482271.5:c.-153G>A (TF) | ENSP00000419338.1:n.-153G>A | |
| ENST00000485977.1:c.158-3325G>A (TF) | ENSP00000418716.1:n.158-3325G>A | |
| ENST00000493011.5:n.277G>A (TF) | ||
| ENST00000494430.5:c.229G>A (TF) | ENSP00000418396.1:p.Asp77Asn | |
| ENST00000498622.1:n.458G>A (TF) | ||
| NM_001063.3:c.229G>A (TF) | NP_001054.1:p.Asp77Asn | |
| XM_011513100.1:c.229G>A (TF) | XP_011511402.1:p.Asp77Asn | |
| NM_001354703.1:c.97G>A (TF) | NP_001341632.1:p.Asp33Asn | |
| NM_001354704.1:c.-153G>A (TF) | NP_001341633.1:n.-153G>A | |
| NM_001063.4:c.229G>A (TF) MANE Select | NP_001054.2:p.Asp77Asn | |
| NM_001354703.2:c.97G>A (TF) | NP_001341632.2:p.Asp33Asn | |
| NM_001354704.2:c.-153G>A (TF) | NP_001341633.2:n.-153G>A |