Linked Data
dbSNP Id:
rs1565309206
gnomAD v2:
11-66328212-A-G
gnomAD v4:
11-66560741-A-G
MyVariant Identifiers:
chr11:g.66328212A>G (hg19)
chr11:g.66328212_66328213delinsGC (hg19)
chr11:g.66560741A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560741A>G , CM000673.2:g.66560741A>G | GRCh38 |
| NC_000011.9:g.66328212A>G , CM000673.1:g.66328212A>G | GRCh37 |
| NC_000011.8:g.66084788A>G | NCBI36 |
| NG_013304.2:g.18822A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1846A>G MANE Select | ENSP00000426797.1:p.Thr616Ala | |
| ENST00000502692.5:c.1975A>G | ENSP00000422007.1:p.Thr659Ala | |
| ENST00000513398.1:c.1846A>G | ENSP00000426797.1:p.Thr616Ala | |
| NM_001104.3:c.1846A>G | NP_001095.2:p.Thr616Ala | |
| NM_001258371.2:c.1975A>G | NP_001245300.2:p.Thr659Ala | |
| NM_001104.4:c.1846A>G MANE Select | NP_001095.2:p.Thr616Ala | |
| NM_001258371.3:c.1975A>G | NP_001245300.2:p.Thr659Ala |