Linked Data
ClinVar Variation Id:
1917389
ClinVar RCV Id:
RCV002598227
dbSNP Id:
rs1282752245
gnomAD v3:
2-73601426-C-T
gnomAD v4:
2-73601426-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601426C>T , CM000664.2:g.73601426C>T | GRCh38 |
| NC_000002.11:g.73828553C>T , CM000664.1:g.73828553C>T | GRCh37 |
| NC_000002.10:g.73682061C>T | NCBI36 |
| NG_011690.1:g.220674C>T , LRG_741:g.220674C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11723C>T | ENSP00000507671.1:p.Ala3908Val | |
| ENST00000682801.1:c.11167-759C>T | ENSP00000507862.1:n.11167-759C>T | |
| ENST00000682859.1:c.11723C>T | ENSP00000508222.1:p.Ala3908Val | |
| ENST00000683791.1:c.4809C>T | ||
| ENST00000684460.1:c.9004C>T | ||
| ENST00000684548.1:c.11723C>T | ENSP00000507421.1:p.Ala3908Val | |
| ENST00000684590.1:c.6170C>T | ENSP00000507376.1:p.Ala2057Val | |
| ENST00000684656.1:c.9188C>T | ||
| ENST00000613296.6:c.12104C>T MANE Select | ENSP00000482968.1:p.Ala4035Val | |
| ENST00000651057.1:c.2258C>T | ENSP00000498504.1:p.Ala753Val | |
| ENST00000651434.1:c.3460C>T | ||
| ENST00000651750.1:c.1260+545C>T | ||
| ENST00000652487.1:c.3275C>T | ||
| ENST00000464408.3:n.279C>T | ||
| ENST00000484298.5:c.11978C>T | ENSP00000478155.1:p.Ala3993Val | |
| ENST00000613296.4:c.12104C>T | ENSP00000482968.1:p.Ala4035Val | |
| ENST00000620466.4:n.5907C>T | ||
| NM_015120.4:c.12107C>T , LRG_741t1:c.12107C>T | NP_055935.4:p.Ala4036Val | |
| NM_001378454.1:c.12104C>T MANE Select | NP_001365383.1:p.Ala4035Val |