Linked Data
dbSNP Id:
rs1463799256
gnomAD v2:
5-56177576-C-G
gnomAD v3:
5-56881749-C-G
gnomAD v4:
5-56881749-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881749C>G , CM000667.2:g.56881749C>G | GRCh38 |
| NC_000005.9:g.56177576C>G , CM000667.1:g.56177576C>G | GRCh37 |
| NC_000005.8:g.56213333C>G | NCBI36 |
| NG_031884.1:g.71677C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.2549C>G MANE Select | ENSP00000382423.3:p.Thr850Ser | |
| ENST00000399503.3:c.2549C>G | ENSP00000382423.3:p.Thr850Ser | |
| NM_005921.1:c.2549C>G | NP_005912.1:p.Thr850Ser | |
| XM_005248519.3:c.2171C>G | XP_005248576.2:p.Thr724Ser | |
| XM_011543406.1:c.2294C>G | XP_011541708.1:p.Thr765Ser | |
| XM_011543407.1:c.2270C>G | XP_011541709.1:p.Thr757Ser | |
| XM_011543408.1:c.2549C>G | XP_011541710.1:p.Thr850Ser | |
| XM_017009484.1:c.2138C>G | XP_016864973.1:p.Thr713Ser | |
| XM_017009485.1:c.2060C>G | XP_016864974.1:p.Thr687Ser | |
| XR_001742068.2:n.2580C>G | ||
| NM_005921.2:c.2549C>G MANE Select | NP_005912.1:p.Thr850Ser |