Linked Data
dbSNP Id:
rs371050976
ExAC:
17:39022962 T / C
gnomAD v2:
17-39022962-T-C
gnomAD v3:
17-40866710-T-C
gnomAD v4:
17-40866710-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866710T>C , CM000679.2:g.40866710T>C | GRCh38 |
| NC_000017.10:g.39022962T>C , CM000679.1:g.39022962T>C | GRCh37 |
| NC_000017.9:g.36276488T>C | NCBI36 |
| NG_008077.1:g.5501A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251643.5:c.477A>G MANE Select | ENSP00000251643.4:p.Glu159= | |
| ENST00000647902.1:c.369A>G | ENSP00000497770.1:p.Glu123= | |
| ENST00000251643.4:c.477A>G | ENSP00000251643.4:p.Glu159= | |
| NM_000223.3:c.477A>G | NP_000214.1:p.Glu159= | |
| XR_934754.1:n.1500+15850T>C | ||
| XR_934754.2:n.2008+15850T>C | ||
| NM_000223.4:c.477A>G MANE Select | NP_000214.1:p.Glu159= |