ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55017618C>T , CM000685.2:g.55017618C>T | GRCh38 |
| NC_000023.10:g.55044051C>T , CM000685.1:g.55044051C>T | GRCh37 |
| NC_000023.9:g.55060776C>T | NCBI36 |
| NG_008983.1:g.18447G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493869.2:c.421G>A | ENSP00000495713.1:p.Gly141Ser | |
| ENST00000650242.1:c.871G>A MANE Select | ENSP00000497236.1:p.Gly291Ser | |
| ENST00000330807.9:c.871G>A | ENSP00000332369.5:p.Gly291Ser | |
| ENST00000335854.8:c.760G>A | ENSP00000337131.4:p.Gly254Ser | |
| ENST00000396198.7:c.832G>A | ENSP00000379501.3:p.Gly278Ser | |
| ENST00000463868.5:n.588G>A | ||
| ENST00000498636.1:n.162G>A | ||
| NM_000032.4:c.871G>A | NP_000023.2:p.Gly291Ser | |
| NM_001037967.3:c.760G>A | NP_001033056.1:p.Gly254Ser | |
| NM_001037968.3:c.832G>A | NP_001033057.1:p.Gly278Ser | |
| XM_005261995.2:c.943G>A | XP_005262052.1:p.Gly315Ser | |
| XM_011530771.1:c.10G>A | XP_011529073.1:p.Gly4Ser | |
| NM_000032.5:c.871G>A MANE Select | NP_000023.2:p.Gly291Ser | |
| NM_001037967.4:c.760G>A | NP_001033056.1:p.Gly254Ser | |
| NM_001037968.4:c.832G>A | NP_001033057.1:p.Gly278Ser |