Linked Data
ClinVar Variation Id:
289752
dbSNP Id:
rs779939785
ExAC:
15:42681242 A / G
gnomAD v2:
15-42681242-A-G
gnomAD v4:
15-42389044-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42389044A>G , CM000677.2:g.42389044A>G | GRCh38 |
| NC_000015.9:g.42681242A>G , CM000677.1:g.42681242A>G | GRCh37 |
| NC_000015.8:g.40468534A>G | NCBI36 |
| NG_008660.1:g.45942A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.749A>G | ENSP00000183936.4:p.Lys250Arg | |
| ENST00000357568.8:c.749A>G | ENSP00000350181.3:p.Lys250Arg | |
| ENST00000397163.8:c.749A>G MANE Select | ENSP00000380349.3:p.Lys250Arg | |
| ENST00000466369.5:n.1258A>G | ||
| ENST00000483208.5:n.980A>G | ||
| ENST00000495723.1:n.980A>G | ||
| ENST00000549793.5:n.980A>G | ||
| ENST00000638141.2:n.764A>G | ||
| ENST00000673705.1:c.70+4492A>G | ENSP00000501021.1:n.70+4492A>G | |
| ENST00000318023.11:c.749A>G | ENSP00000326281.8:p.Lys250Arg | |
| ENST00000349748.7:c.749A>G | ENSP00000183936.4:p.Lys250Arg | |
| ENST00000357568.7:c.749A>G | ENSP00000350181.3:p.Lys250Arg | |
| ENST00000397163.7:c.749A>G | ENSP00000380349.3:p.Lys250Arg | |
| NM_000070.2:c.749A>G | NP_000061.1:p.Lys250Arg | |
| NM_024344.1:c.749A>G | NP_077320.1:p.Lys250Arg | |
| NM_173087.1:c.749A>G | NP_775110.1:p.Lys250Arg | |
| NM_000070.3:c.749A>G MANE Select | NP_000061.1:p.Lys250Arg | |
| NM_024344.2:c.749A>G | NP_077320.1:p.Lys250Arg | |
| NM_173087.2:c.749A>G | NP_775110.1:p.Lys250Arg |