Linked Data
dbSNP Id:
rs757789723
ExAC:
18:57105350 C / T
gnomAD v2:
18-57105350-C-T
gnomAD v4:
18-59438118-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59438118C>T , CM000680.2:g.59438118C>T | GRCh38 |
| NC_000018.9:g.57105350C>T , CM000680.1:g.57105350C>T | GRCh37 |
| NC_000018.8:g.55256330C>T | NCBI36 |
| NG_016990.1:g.264295G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000589419.2:n.983G>A | ||
| ENST00000650467.2:c.758G>A | ENSP00000496897.2:p.Gly253Glu | |
| ENST00000695903.1:c.1093G>A | ENSP00000512255.1:p.Gly365Ser | |
| ENST00000695904.1:c.1093G>A | ENSP00000512259.1:p.Gly365Ser | |
| ENST00000439986.9:c.980G>A MANE Select | ENSP00000404464.2:p.Gly327Glu | |
| ENST00000589116.2:n.688G>A | ||
| ENST00000649564.1:c.980G>A | ENSP00000497183.1:p.Gly327Glu | |
| ENST00000650467.1:c.636G>A | ||
| ENST00000398179.3:c.770G>A | ENSP00000381241.3:p.Gly257Glu | |
| ENST00000439986.8:c.980G>A | ENSP00000404464.2:p.Gly327Glu | |
| ENST00000589116.1:n.688G>A | ||
| NM_133459.3:c.980G>A | NP_597716.1:p.Gly327Glu | |
| XM_005266648.2:c.980G>A | XP_005266705.1:p.Gly327Glu | |
| NM_133459.4:c.980G>A MANE Select | NP_597716.1:p.Gly327Glu | |
| XM_017025556.1:c.1093G>A | XP_016881045.1:p.Gly365Ser | |
| XM_017025557.1:c.1093G>A | XP_016881046.1:p.Gly365Ser | |
| XM_017025558.1:c.980G>A | XP_016881047.1:p.Gly327Glu | |
| XM_024451091.1:c.980G>A | XP_024306859.1:p.Gly327Glu | |
| XR_001753142.1:n.1932G>A |