Linked Data
ClinVar Variation Id:
1045195
ClinVar RCV Id:
RCV001349564
dbSNP Id:
rs2036786192
gnomAD v4:
18-58165860-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58165860A>G , CM000680.2:g.58165860A>G | GRCh38 |
| NC_000018.9:g.55833092A>G , CM000680.1:g.55833092A>G | GRCh37 |
| NC_000018.8:g.53984090A>G | NCBI36 |
| NG_029954.1:g.126483A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400345.8:c.121A>G MANE Select | ENSP00000383199.2:p.Ser41Gly | |
| ENST00000585594.6:n.98A>G | ||
| ENST00000674613.1:n.98-79567A>G | ||
| ENST00000674845.1:c.*627A>G | ENSP00000502309.1:n.*627A>G | |
| ENST00000675137.1:n.243A>G | ||
| ENST00000675147.1:c.100A>G | ENSP00000501840.1:p.Ser34Gly | |
| ENST00000675502.1:c.-243A>G | ENSP00000502428.1:n.-243A>G | |
| ENST00000675801.1:c.-243A>G | ENSP00000502688.1:n.-243A>G | |
| ENST00000676024.1:c.121A>G | ENSP00000502105.1:p.Ser41Gly | |
| ENST00000676223.1:c.82A>G | ENSP00000502361.1:p.Ser28Gly | |
| ENST00000256830.13:c.121A>G | ENSP00000256830.8:p.Ser41Gly | |
| ENST00000356462.10:c.121A>G | ENSP00000348847.5:p.Ser41Gly | |
| ENST00000357895.9:c.97A>G | ENSP00000350569.4:p.Ser33Gly | |
| ENST00000382850.8:c.121A>G | ENSP00000372301.3:p.Ser41Gly | |
| ENST00000400345.7:c.121A>G | ENSP00000383199.2:p.Ser41Gly | |
| ENST00000435432.6:c.-321A>G | ENSP00000393395.1:n.-321A>G | |
| ENST00000456986.5:c.-243A>G | ENSP00000411947.1:n.-243A>G | |
| ENST00000585363.5:n.158A>G | ||
| ENST00000586263.5:c.97A>G | ENSP00000468546.1:p.Ser33Gly | |
| ENST00000588516.5:n.1221A>G | ||
| ENST00000589054.5:c.48+121152A>G | ENSP00000465669.1:n.48+121152A>G | |
| ENST00000590694.5:n.164A>G | ||
| ENST00000591989.5:n.169A>G | ||
| ENST00000592846.5:c.-302A>G | ENSP00000466776.1:n.-302A>G | |
| NM_001144964.1:c.-243A>G | NP_001138436.1:n.-243A>G | |
| NM_001144965.1:c.-243A>G | NP_001138437.1:n.-243A>G | |
| NM_001144967.2:c.121A>G | NP_001138439.1:p.Ser41Gly | |
| NM_001144968.1:c.97A>G | NP_001138440.1:p.Ser33Gly | |
| NM_001144969.1:c.97A>G | NP_001138441.1:p.Ser33Gly | |
| NM_001144971.1:c.-321A>G | NP_001138443.1:n.-321A>G | |
| NM_001243960.1:c.121A>G | NP_001230889.1:p.Ser41Gly | |
| NM_015277.5:c.121A>G | NP_056092.2:p.Ser41Gly | |
| XM_006722426.2:c.121A>G | XP_006722489.1:p.Ser41Gly | |
| XM_006722428.2:c.121A>G | XP_006722491.1:p.Ser41Gly | |
| XM_011525887.1:c.97A>G | XP_011524189.1:p.Ser33Gly | |
| XM_006722426.4:c.121A>G | XP_006722489.1:p.Ser41Gly | |
| XM_006722428.4:c.121A>G | XP_006722491.1:p.Ser41Gly | |
| XM_011525887.3:c.97A>G | XP_011524189.1:p.Ser33Gly | |
| XM_017025678.2:c.121A>G | XP_016881167.1:p.Ser41Gly | |
| XM_024451129.1:c.-321A>G | XP_024306897.1:n.-321A>G | |
| XM_024451131.1:c.-243A>G | XP_024306899.1:n.-243A>G | |
| XM_024451134.1:c.-302A>G | XP_024306902.1:n.-302A>G | |
| XM_024451135.1:c.-243A>G | XP_024306903.1:n.-243A>G | |
| XM_024451136.1:c.-243A>G | XP_024306904.1:n.-243A>G | |
| XM_024451137.1:c.-321A>G | XP_024306905.1:n.-321A>G | |
| NM_001144967.3:c.121A>G MANE Select | NP_001138439.1:p.Ser41Gly | |
| NM_001144965.2:c.-243A>G | NP_001138437.1:n.-243A>G | |
| NM_001144968.2:c.97A>G | NP_001138440.1:p.Ser33Gly | |
| NM_001144969.2:c.97A>G | NP_001138441.1:p.Ser33Gly | |
| NM_001144971.2:c.-321A>G | NP_001138443.1:n.-321A>G | |
| NM_001243960.2:c.121A>G | NP_001230889.1:p.Ser41Gly | |
| NM_015277.6:c.121A>G | NP_056092.2:p.Ser41Gly |