Linked Data
ClinVar Variation Id:
1096776
dbSNP Id:
rs753956649
ExAC:
1:68895576 T / G
gnomAD v2:
1-68895576-T-G
gnomAD v4:
1-68429893-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429893T>G , CM000663.2:g.68429893T>G | GRCh38 |
| NC_000001.10:g.68895576T>G , CM000663.1:g.68895576T>G | GRCh37 |
| NC_000001.9:g.68668164T>G | NCBI36 |
| NG_008472.1:g.25067A>C | |
| NG_008472.2:g.25067A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1485A>C MANE Select | ENSP00000262340.5:p.Ala495= | |
| ENST00000262340.5:c.1485A>C | ENSP00000262340.5:p.Ala495= | |
| NM_000329.2:c.1485A>C | NP_000320.1:p.Ala495= | |
| XM_017002027.1:c.1209A>C | XP_016857516.1:p.Ala403= | |
| NM_000329.3:c.1485A>C MANE Select | NP_000320.1:p.Ala495= |