Linked Data
ClinVar Variation Id:
724334
ClinVar RCV Id:
RCV000898233
dbSNP Id:
rs114469680
ExAC:
2:1204860 C / G
gnomAD v2:
2-1204860-C-G
gnomAD v3:
2-1209174-C-G
gnomAD v4:
2-1209174-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1209174C>G , CM000664.2:g.1209174C>G | GRCh38 |
| NC_000002.11:g.1204860C>G , CM000664.1:g.1204860C>G | GRCh37 |
| NC_000002.10:g.1194860C>G | NCBI36 |
| NG_029707.1:g.263307C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308624.10:c.663C>G MANE Select | ENSP00000311837.5:p.Ser221= | |
| ENST00000308624.9:c.663C>G | ENSP00000311837.5:p.Ser221= | |
| ENST00000407292.1:c.282C>G | ENSP00000385020.1:p.Ser94= | |
| ENST00000463442.5:n.541C>G | ||
| ENST00000467759.5:n.295C>G | ||
| ENST00000475201.5:n.224-10708C>G | ||
| ENST00000494178.1:n.415C>G | ||
| ENST00000498321.1:n.46C>G | ||
| NM_018968.3:c.663C>G | NP_061841.2:p.Ser221= | |
| XM_011510364.1:c.666C>G | XP_011508666.1:p.Ser222= | |
| XM_011510365.1:c.486C>G | XP_011508667.1:p.Ser162= | |
| XM_011510366.1:c.324C>G | XP_011508668.1:p.Ser108= | |
| XM_011510367.1:c.324C>G | XP_011508669.1:p.Ser108= | |
| XM_011510368.1:c.324C>G | XP_011508670.1:p.Ser108= | |
| XM_011510366.2:c.324C>G | XP_011508668.1:p.Ser108= | |
| XM_017004361.1:c.666C>G | XP_016859850.1:p.Ser222= | |
| XM_017004362.1:c.666C>G | XP_016859851.1:p.Ser222= | |
| XM_017004363.1:c.486C>G | XP_016859852.1:p.Ser162= | |
| XM_017004364.1:c.444C>G | XP_016859853.1:p.Ser148= | |
| XM_017004365.1:c.666C>G | XP_016859854.1:p.Ser222= | |
| XM_017004366.1:c.666C>G | XP_016859855.1:p.Ser222= | |
| XM_017004367.1:c.324C>G | XP_016859856.1:p.Ser108= | |
| XM_017004368.1:c.666C>G | XP_016859857.1:p.Ser222= | |
| XM_017004369.1:c.666C>G | XP_016859858.1:p.Ser222= | |
| XM_017004370.1:c.666C>G | XP_016859859.1:p.Ser222= | |
| XM_017004371.1:c.666C>G | XP_016859860.1:p.Ser222= | |
| XM_017004372.1:c.666C>G | XP_016859861.1:p.Ser222= | |
| XM_017004373.2:c.-13C>G | XP_016859862.1:n.-13C>G | |
| XM_017004374.1:c.595-28714C>G | XP_016859863.1:n.595-28714C>G | |
| XM_024452970.1:c.-13C>G | XP_024308738.1:n.-13C>G | |
| NM_018968.4:c.663C>G MANE Select | NP_061841.2:p.Ser221= |