Linked Data
ClinVar Variation Id:
435217
dbSNP Id:
rs1198518631
gnomAD v2:
1-240256108-A-C
gnomAD v3:
1-240092808-A-C
gnomAD v4:
1-240092808-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240092808A>C , CM000663.2:g.240092808A>C | GRCh38 |
| NC_000001.10:g.240256108A>C , CM000663.1:g.240256108A>C | GRCh37 |
| NC_000001.9:g.238322731A>C | NCBI36 |
| NG_042054.1:g.5924A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319653.14:c.699A>C MANE Select | ENSP00000318884.9:p.Ala233= | |
| ENST00000319653.13:c.699A>C | ENSP00000318884.9:p.Ala233= | |
| ENST00000447095.5:c.-87+24735A>C | ENSP00000409308.1:n.-87+24735A>C | |
| NM_001305424.1:c.699A>C | NP_001292353.1:p.Ala233= | |
| NM_020066.4:c.699A>C | NP_064450.3:p.Ala233= | |
| XM_011544237.1:c.699A>C | XP_011542539.1:p.Ala233= | |
| XR_949151.1:n.920A>C | ||
| NM_001348094.1:c.699A>C | NP_001335023.1:p.Ala233= | |
| XM_011544237.3:c.699A>C | XP_011542539.1:p.Ala233= | |
| XM_017001837.1:c.699A>C | XP_016857326.1:p.Ala233= | |
| XM_017001838.1:c.699A>C | XP_016857327.1:p.Ala233= | |
| NM_020066.5:c.699A>C MANE Select | NP_064450.3:p.Ala233= | |
| NM_001305424.2:c.699A>C | NP_001292353.1:p.Ala233= | |
| NM_001348094.2:c.699A>C | NP_001335023.1:p.Ala233= |