Linked Data
ClinVar Variation Id:
138733
dbSNP Id:
rs144362146
ExAC:
17:46024085 C / G
gnomAD v2:
17-46024085-C-G
gnomAD v3:
17-47946719-C-G
gnomAD v4:
17-47946719-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946719C>G , CM000679.2:g.47946719C>G | GRCh38 |
| NC_000017.10:g.46024085C>G , CM000679.1:g.46024085C>G | GRCh37 |
| NC_000017.9:g.43379084C>G | NCBI36 |
| NG_008744.1:g.10197C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.594C>G | ENSP00000225573.5:p.Ser198= | |
| ENST00000434554.7:c.669C>G | ENSP00000399960.3:p.Ser223= | |
| ENST00000582171.6:c.*388C>G | ENSP00000463994.1:n.*388C>G | |
| ENST00000583599.6:c.483C>G | ENSP00000463919.2:p.Ser161= | |
| ENST00000584061.6:c.654C>G | ENSP00000463972.2:p.Ser218= | |
| ENST00000584806.2:n.392C>G | ||
| ENST00000641305.1:n.2222C>G | ||
| ENST00000641323.1:c.*742C>G | ENSP00000492965.1:n.*742C>G | |
| ENST00000641427.1:n.723C>G | ||
| ENST00000641703.1:c.439C>G | ENSP00000493219.1:n.439C>G | |
| ENST00000641709.1:c.*545C>G | ENSP00000493349.1:n.*545C>G | |
| ENST00000641856.1:c.*1231C>G | ENSP00000493224.1:n.*1231C>G | |
| ENST00000642017.2:c.723C>G MANE Select | ENSP00000493302.2:p.Ser241= | |
| ENST00000225573.4:c.723C>G | ENSP00000225573.4:p.Ser241= | |
| ENST00000434554.6:c.594C>G | ENSP00000399960.2:p.Ser198= | |
| ENST00000582171.5:c.*388C>G | ENSP00000463994.1:n.*388C>G | |
| ENST00000584806.1:n.392C>G | ||
| ENST00000585320.5:c.*205C>G | ENSP00000462345.1:n.*205C>G | |
| NM_018129.3:c.723C>G | NP_060599.1:p.Ser241= | |
| XM_005257500.2:c.483C>G | XP_005257557.1:p.Ser161= | |
| XM_011524968.1:c.438C>G | XP_011523270.1:p.Ser146= | |
| XM_005257500.3:c.483C>G | XP_005257557.1:p.Ser161= | |
| XM_011524968.2:c.438C>G | XP_011523270.1:p.Ser146= | |
| XM_017024813.1:c.483C>G | XP_016880302.1:p.Ser161= | |
| NM_018129.4:c.723C>G MANE Select | NP_060599.1:p.Ser241= |