Linked Data
ClinVar Variation Id:
129804
dbSNP Id:
rs11263683
ExAC:
15:23052632 T / C
gnomAD v2:
15-23052632-T-C
gnomAD v3:
15-22820436-A-G
gnomAD v4:
15-22820436-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22820436A>G , CM000677.2:g.22820436A>G | GRCh38 |
| NC_000015.9:g.23052632T>C , CM000677.1:g.23052632T>C | GRCh37 |
| NC_000015.8:g.20604073T>C | NCBI36 |
| NG_009056.1:g.39212A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.441A>G MANE Select | ENSP00000337452.4:p.Thr147= | |
| ENST00000337435.8:c.441A>G | ENSP00000337452.4:p.Thr147= | |
| ENST00000437912.6:c.216A>G | ENSP00000393962.2:p.Thr72= | |
| ENST00000557930.1:c.356A>G | ENSP00000453797.1:n.356A>G | |
| ENST00000559448.5:c.413A>G | ||
| ENST00000560069.5:n.494A>G | ||
| ENST00000561183.5:c.216A>G | ENSP00000453722.1:p.Thr72= | |
| NM_001142275.1:c.216A>G | NP_001135747.1:p.Thr72= | |
| NM_144599.4:c.441A>G | NP_653200.2:p.Thr147= | |
| NM_144599.5:c.441A>G MANE Select | NP_653200.2:p.Thr147= |