Linked Data
dbSNP Id:
rs771883893
ExAC:
17:73517874 A / G
gnomAD v2:
17-73517874-A-G
gnomAD v4:
17-75521793-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75521793A>G , CM000679.2:g.75521793A>G | GRCh38 |
| NC_000017.10:g.73517874A>G , CM000679.1:g.73517874A>G | GRCh37 |
| NC_000017.9:g.71029469A>G | NCBI36 |
| NG_013041.1:g.10266A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.712A>G MANE Select | ENSP00000327487.6:p.Ser238Gly | |
| ENST00000434205.8:c.409A>G | ENSP00000406559.4:p.Ser137Gly | |
| ENST00000545228.3:c.712A>G | ENSP00000438169.3:p.Ser238Gly | |
| ENST00000579449.2:n.511A>G | ||
| ENST00000580013.6:n.915A>G | ||
| ENST00000583818.2:c.766A>G | ENSP00000461928.2:n.766A>G | |
| ENST00000679370.1:n.1293A>G | ||
| ENST00000679429.1:c.*170A>G | ENSP00000505403.1:n.*170A>G | |
| ENST00000679443.1:n.781A>G | ||
| ENST00000679782.1:c.712A>G | ENSP00000505995.1:p.Ser238Gly | |
| ENST00000679919.1:n.781A>G | ||
| ENST00000679928.1:c.*323A>G | ENSP00000506071.1:n.*323A>G | |
| ENST00000680528.1:n.737A>G | ||
| ENST00000680999.1:c.712A>G | ENSP00000504984.1:p.Ser238Gly | |
| ENST00000681282.1:c.741A>G | ENSP00000506339.1:p.Pro247= | |
| ENST00000333213.10:c.712A>G | ENSP00000327487.6:p.Ser238Gly | |
| ENST00000578415.1:c.672A>G | ||
| ENST00000583173.5:c.459-214A>G | ENSP00000463619.1:n.459-214A>G | |
| ENST00000583818.1:c.661A>G | ENSP00000461928.1:n.661A>G | |
| NM_207346.2:c.712A>G | NP_997229.2:p.Ser238Gly | |
| XM_005257229.2:c.712A>G | XP_005257286.1:p.Ser238Gly | |
| XM_006721821.2:c.409A>G | XP_006721884.1:p.Ser137Gly | |
| XM_011524616.1:c.712A>G | XP_011522918.1:p.Ser238Gly | |
| XM_011524617.1:c.712A>G | XP_011522919.1:p.Ser238Gly | |
| XM_011524618.1:c.712A>G | XP_011522920.1:p.Ser238Gly | |
| XR_243646.2:n.742A>G | ||
| XM_005257229.4:c.712A>G | XP_005257286.1:p.Ser238Gly | |
| XR_243646.4:n.748A>G | ||
| NM_207346.3:c.712A>G MANE Select | NP_997229.2:p.Ser238Gly |