Linked Data
ClinVar Variation Id:
1754081
ClinVar RCV Id:
RCV002364292
dbSNP Id:
rs2133318110
gnomAD v4:
9-136497206-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497206G>A , CM000671.2:g.136497206G>A | GRCh38 |
| NC_000009.11:g.139391658G>A , CM000671.1:g.139391658G>A | GRCh37 |
| NC_000009.10:g.138511479G>A | NCBI36 |
| NG_007458.1:g.53581C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6533C>T MANE Select | ENSP00000498587.1:p.Ala2178Val | |
| ENST00000679595.1:c.*1573C>T | ENSP00000506241.1:n.*1573C>T | |
| ENST00000679969.1:n.3129C>T | ||
| ENST00000680003.1:n.2865C>T | ||
| ENST00000680133.1:c.6419C>T | ENSP00000505319.1:p.Ala2140Val | |
| ENST00000680218.1:c.6413C>T | ENSP00000505339.1:p.Ala2138Val | |
| ENST00000680668.1:c.6419C>T | ENSP00000506336.1:p.Ala2140Val | |
| ENST00000680778.1:c.4130C>T | ENSP00000506033.1:p.Ala1377Val | |
| ENST00000680924.1:c.*3933C>T | ENSP00000506031.1:n.*3933C>T | |
| ENST00000681135.1:c.*4142C>T | ENSP00000506636.1:n.*4142C>T | |
| ENST00000681298.1:n.4638C>T | ||
| ENST00000681454.1:c.*5769C>T | ENSP00000505763.1:n.*5769C>T | |
| ENST00000277541.6:c.6533C>T | ENSP00000277541.6:p.Ala2178Val | |
| NM_017617.3:c.6533C>T | NP_060087.3:p.Ala2178Val | |
| XM_011518717.1:c.5834C>T | XP_011517019.1:p.Ala1945Val | |
| NM_017617.5:c.6533C>T MANE Select | NP_060087.3:p.Ala2178Val | |
| XM_011518717.2:c.5810C>T | XP_011517019.2:p.Ala1937Val |