Linked Data
ClinVar Variation Id:
289751
dbSNP Id:
rs763719290
ExAC:
15:42680060 C / T
gnomAD v2:
15-42680060-C-T
gnomAD v4:
15-42387862-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42387862C>T , CM000677.2:g.42387862C>T | GRCh38 |
| NC_000015.9:g.42680060C>T , CM000677.1:g.42680060C>T | GRCh37 |
| NC_000015.8:g.40467352C>T | NCBI36 |
| NG_008660.1:g.44760C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.608C>T | ENSP00000183936.4:p.Ala203Val | |
| ENST00000357568.8:c.608C>T | ENSP00000350181.3:p.Ala203Val | |
| ENST00000397163.8:c.608C>T MANE Select | ENSP00000380349.3:p.Ala203Val | |
| ENST00000466369.5:n.1117C>T | ||
| ENST00000483208.5:n.839C>T | ||
| ENST00000495723.1:n.839C>T | ||
| ENST00000549793.5:n.839C>T | ||
| ENST00000638141.2:n.623C>T | ||
| ENST00000673705.1:c.70+3310C>T | ENSP00000501021.1:n.70+3310C>T | |
| ENST00000318023.11:c.608C>T | ENSP00000326281.8:p.Ala203Val | |
| ENST00000349748.7:c.608C>T | ENSP00000183936.4:p.Ala203Val | |
| ENST00000357568.7:c.608C>T | ENSP00000350181.3:p.Ala203Val | |
| ENST00000397163.7:c.608C>T | ENSP00000380349.3:p.Ala203Val | |
| NM_000070.2:c.608C>T | NP_000061.1:p.Ala203Val | |
| NM_024344.1:c.608C>T | NP_077320.1:p.Ala203Val | |
| NM_173087.1:c.608C>T | NP_775110.1:p.Ala203Val | |
| NM_000070.3:c.608C>T MANE Select | NP_000061.1:p.Ala203Val | |
| NM_024344.2:c.608C>T | NP_077320.1:p.Ala203Val | |
| NM_173087.2:c.608C>T | NP_775110.1:p.Ala203Val |