Linked Data
dbSNP Id:
rs765556479
ExAC:
2:174231051 C / G
gnomAD v2:
2-174231051-C-G
gnomAD v4:
2-173366323-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.173366323C>G , CM000664.2:g.173366323C>G | GRCh38 |
| NC_000002.11:g.174231051C>G , CM000664.1:g.174231051C>G | GRCh37 |
| NC_000002.10:g.173939297C>G | NCBI36 |
| NG_047202.1:g.17307C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695901.1:c.798+731C>G | ENSP00000512251.1:n.798+731C>G | |
| ENST00000695911.1:c.854C>G | ENSP00000512262.1:n.854C>G | |
| ENST00000695912.1:c.1073C>G | ENSP00000512263.1:p.Thr358Ser | |
| ENST00000695913.1:c.*1829C>G | ENSP00000512264.1:n.*1829C>G | |
| ENST00000695914.1:c.836C>G | ENSP00000512265.1:p.Thr279Ser | |
| ENST00000695918.1:n.304C>G | ||
| ENST00000306721.8:c.1076C>G MANE Select | ENSP00000306968.3:p.Thr359Ser | |
| ENST00000306721.7:c.1076C>G | ENSP00000306968.3:p.Thr359Ser | |
| ENST00000347703.7:c.839C>G | ENSP00000272789.4:p.Thr280Ser | |
| ENST00000410019.3:c.713C>G | ENSP00000386833.3:p.Thr238Ser | |
| ENST00000410101.7:c.944C>G | ENSP00000386656.3:p.Thr315Ser | |
| ENST00000467411.5:n.1768+731C>G | ||
| ENST00000496441.5:n.1830C>G | ||
| NM_031942.4:c.1076C>G | NP_114148.3:p.Thr359Ser | |
| NM_145810.2:c.839C>G | NP_665809.1:p.Thr280Ser | |
| XM_011511957.1:c.995C>G | XP_011510259.1:p.Thr332Ser | |
| XR_923034.1:n.1974C>G | ||
| NM_031942.5:c.1076C>G MANE Select | NP_114148.3:p.Thr359Ser | |
| NM_145810.3:c.839C>G | NP_665809.1:p.Thr280Ser |