Linked Data
ClinVar Variation Id:
281088
dbSNP Id:
rs111806046
ExAC:
15:42691723 A / G
gnomAD v2:
15-42691723-A-G
gnomAD v3:
15-42399525-A-G
gnomAD v4:
15-42399525-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42399525A>G , CM000677.2:g.42399525A>G | GRCh38 |
| NC_000015.9:g.42691723A>G , CM000677.1:g.42691723A>G | GRCh37 |
| NC_000015.8:g.40479015A>G | NCBI36 |
| NG_008660.1:g.56423A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.1083A>G | ENSP00000183936.4:p.Thr361= | |
| ENST00000357568.8:c.1227A>G | ENSP00000350181.3:p.Thr409= | |
| ENST00000397163.8:c.1227A>G MANE Select | ENSP00000380349.3:p.Thr409= | |
| ENST00000466369.5:n.1736A>G | ||
| ENST00000483208.5:n.1458A>G | ||
| ENST00000495723.1:n.1458A>G | ||
| ENST00000549793.5:n.1458A>G | ||
| ENST00000638141.2:n.1098A>G | ||
| ENST00000673658.1:n.211A>G | ||
| ENST00000673705.1:c.182A>G | ENSP00000501021.1:p.Gln61Arg | |
| ENST00000318023.11:c.1083A>G | ENSP00000326281.8:p.Thr361= | |
| ENST00000349748.7:c.1083A>G | ENSP00000183936.4:p.Thr361= | |
| ENST00000357568.7:c.1227A>G | ENSP00000350181.3:p.Thr409= | |
| ENST00000397163.7:c.1227A>G | ENSP00000380349.3:p.Thr409= | |
| NM_000070.2:c.1227A>G | NP_000061.1:p.Thr409= | |
| NM_024344.1:c.1227A>G | NP_077320.1:p.Thr409= | |
| NM_173087.1:c.1083A>G | NP_775110.1:p.Thr361= | |
| NM_000070.3:c.1227A>G MANE Select | NP_000061.1:p.Thr409= | |
| NM_024344.2:c.1227A>G | NP_077320.1:p.Thr409= | |
| NM_173087.2:c.1083A>G | NP_775110.1:p.Thr361= |