Linked Data
ClinVar Variation Id:
5245
ClinVar RCV Id:
RCV000005557
dbSNP Id:
rs121908391
gnomAD v4:
17-59084045-C-G
PubMed:
PMID:17100991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59084045C>G , CM000679.2:g.59084045C>G | GRCh38 |
| NC_000017.10:g.57161406C>G , CM000679.1:g.57161406C>G | GRCh37 |
| NC_000017.9:g.54516188C>G | NCBI36 |
| NG_009298.1:g.27861G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262294.12:c.326G>C MANE Select | ENSP00000262294.7:p.Cys109Ser | |
| ENST00000262294.11:c.326G>C | ENSP00000262294.7:p.Cys109Ser | |
| ENST00000393065.6:c.224G>C | ENSP00000376784.2:p.Cys75Ser | |
| ENST00000393066.7:c.326G>C | ENSP00000376785.3:p.Cys109Ser | |
| ENST00000577554.5:c.*198G>C | ENSP00000462340.1:n.*198G>C | |
| ENST00000580122.5:c.280-2826G>C | ||
| ENST00000580973.5:c.165-4168G>C | ENSP00000464590.1:n.165-4168G>C | |
| NM_001005207.2:c.326G>C | NP_001005207.1:p.Cys109Ser | |
| NM_015294.3:c.326G>C | NP_056109.1:p.Cys109Ser | |
| XM_005257385.1:c.326G>C | XP_005257442.1:p.Cys109Ser | |
| XM_005257387.1:c.224G>C | XP_005257444.1:p.Cys75Ser | |
| XM_005257389.1:c.326G>C | XP_005257446.1:p.Cys109Ser | |
| XM_005257390.1:c.326G>C | XP_005257447.1:p.Cys109Ser | |
| XM_011524831.1:c.326G>C | XP_011523133.1:p.Cys109Ser | |
| XM_011524832.1:c.326G>C | XP_011523134.1:p.Cys109Ser | |
| XM_011524833.1:c.326G>C | XP_011523135.1:p.Cys109Ser | |
| XM_011524834.1:c.224G>C | XP_011523136.1:p.Cys75Ser | |
| XM_011524835.1:c.326G>C | XP_011523137.1:p.Cys109Ser | |
| XM_011524836.1:c.326G>C | XP_011523138.1:p.Cys109Ser | |
| XM_011524837.1:c.326G>C | XP_011523139.1:p.Cys109Ser | |
| NM_001005207.4:c.326G>C | NP_001005207.1:p.Cys109Ser | |
| NM_001320987.2:c.224G>C | NP_001307916.1:p.Cys75Ser | |
| NM_001320988.2:c.326G>C | NP_001307917.1:p.Cys109Ser | |
| NM_001320989.2:c.326G>C | NP_001307918.1:p.Cys109Ser | |
| NM_001320990.2:c.-41G>C | NP_001307919.1:n.-41G>C | |
| NM_001353082.1:c.224G>C | NP_001340011.1:p.Cys75Ser | |
| NM_001353083.1:c.-427G>C | NP_001340012.1:n.-427G>C | |
| NM_001353084.1:c.326G>C | NP_001340013.1:p.Cys109Ser | |
| NM_001353085.1:c.-93-2826G>C | NP_001340014.1:n.-93-2826G>C | |
| NM_001353086.1:c.326G>C | NP_001340015.1:p.Cys109Ser | |
| NM_015294.5:c.326G>C | NP_056109.1:p.Cys109Ser | |
| NR_148346.1:n.829G>C | ||
| NR_148347.1:n.727G>C | ||
| XM_011524832.2:c.326G>C | XP_011523134.1:p.Cys109Ser | |
| XM_017024662.1:c.326G>C | XP_016880151.1:p.Cys109Ser | |
| XM_017024663.2:c.326G>C | XP_016880152.1:p.Cys109Ser | |
| XM_017024664.1:c.326G>C | XP_016880153.1:p.Cys109Ser | |
| XM_017024665.1:c.224G>C | XP_016880154.1:p.Cys75Ser | |
| XM_017024667.1:c.326G>C | XP_016880156.1:p.Cys109Ser | |
| XM_017024669.2:c.224G>C | XP_016880158.1:p.Cys75Ser | |
| XM_017024670.2:c.224G>C | XP_016880159.1:p.Cys75Ser | |
| XM_017024671.2:c.-93-2826G>C | XP_016880160.1:n.-93-2826G>C | |
| XM_017024672.1:c.-93-2826G>C | XP_016880161.1:n.-93-2826G>C | |
| XM_017024673.2:c.-427G>C | XP_016880162.1:n.-427G>C | |
| XM_024450765.1:c.-93-2826G>C | XP_024306533.1:n.-93-2826G>C | |
| NM_015294.6:c.326G>C MANE Select | NP_056109.1:p.Cys109Ser | |
| NM_001005207.5:c.326G>C | NP_001005207.1:p.Cys109Ser | |
| NM_001320987.3:c.224G>C | NP_001307916.1:p.Cys75Ser | |
| NM_001320988.3:c.326G>C | NP_001307917.1:p.Cys109Ser | |
| NM_001320989.3:c.326G>C | NP_001307918.1:p.Cys109Ser | |
| NM_001320990.3:c.-41G>C | NP_001307919.1:n.-41G>C | |
| NM_001353082.2:c.224G>C | NP_001340011.1:p.Cys75Ser | |
| NM_001353083.2:c.-427G>C | NP_001340012.1:n.-427G>C | |
| NM_001353084.2:c.326G>C | NP_001340013.1:p.Cys109Ser | |
| NM_001353085.2:c.-93-2826G>C | NP_001340014.1:n.-93-2826G>C | |
| NM_001353086.2:c.326G>C | NP_001340015.1:p.Cys109Ser | |
| NR_148346.2:n.745G>C | ||
| NR_148347.2:n.643G>C |