Linked Data
ClinVar Variation Id:
315895
dbSNP Id:
rs146403258
ExAC:
15:42686469 G / C
gnomAD v2:
15-42686469-G-C
gnomAD v3:
15-42394271-G-C
gnomAD v4:
15-42394271-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42394271G>C , CM000677.2:g.42394271G>C | GRCh38 |
| NC_000015.9:g.42686469G>C , CM000677.1:g.42686469G>C | GRCh37 |
| NC_000015.8:g.40473761G>C | NCBI36 |
| NG_008660.1:g.51169G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.901G>C | ENSP00000183936.4:p.Glu301Gln | |
| ENST00000357568.8:c.1045G>C | ENSP00000350181.3:p.Glu349Gln | |
| ENST00000397163.8:c.1045G>C MANE Select | ENSP00000380349.3:p.Glu349Gln | |
| ENST00000466369.5:n.1554G>C | ||
| ENST00000483208.5:n.1276G>C | ||
| ENST00000495723.1:n.1276G>C | ||
| ENST00000549793.5:n.1276G>C | ||
| ENST00000638141.2:n.916G>C | ||
| ENST00000673658.1:n.29G>C | ||
| ENST00000673705.1:c.71-2529G>C | ENSP00000501021.1:n.71-2529G>C | |
| ENST00000318023.11:c.901G>C | ENSP00000326281.8:p.Glu301Gln | |
| ENST00000349748.7:c.901G>C | ENSP00000183936.4:p.Glu301Gln | |
| ENST00000357568.7:c.1045G>C | ENSP00000350181.3:p.Glu349Gln | |
| ENST00000397163.7:c.1045G>C | ENSP00000380349.3:p.Glu349Gln | |
| NM_000070.2:c.1045G>C | NP_000061.1:p.Glu349Gln | |
| NM_024344.1:c.1045G>C | NP_077320.1:p.Glu349Gln | |
| NM_173087.1:c.901G>C | NP_775110.1:p.Glu301Gln | |
| NM_000070.3:c.1045G>C MANE Select | NP_000061.1:p.Glu349Gln | |
| NM_024344.2:c.1045G>C | NP_077320.1:p.Glu349Gln | |
| NM_173087.2:c.901G>C | NP_775110.1:p.Glu301Gln |