Linked Data
ClinVar Variation Id:
1962283
ClinVar RCV Id:
RCV002726022
dbSNP Id:
rs1790443878
gnomAD v4:
7-65960926-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960926G>A , CM000669.2:g.65960926G>A | GRCh38 |
| NC_000007.13:g.65425913G>A , CM000669.1:g.65425913G>A | GRCh37 |
| NC_000007.12:g.65063348G>A | NCBI36 |
| NG_016197.1:g.26389C>T | |
| NG_051954.1:g.92828G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1927C>T MANE Select | ENSP00000302728.4:p.Gln643Ter | |
| ENST00000304895.8:c.1927C>T | ENSP00000302728.4:p.Gln643Ter | |
| ENST00000421103.5:c.1489C>T | ENSP00000391390.1:p.Gln497Ter | |
| ENST00000430730.5:c.*1194C>T | ENSP00000411859.1:n.*1194C>T | |
| ENST00000447929.5:c.*1307C>T | ENSP00000411262.1:n.*1307C>T | |
| ENST00000466883.5:n.2317C>T | ||
| NM_000181.3:c.1927C>T | NP_000172.2:p.Gln643Ter | |
| NM_001284290.1:c.1489C>T | NP_001271219.1:p.Gln497Ter | |
| NM_001293104.1:c.1357C>T | NP_001280033.1:p.Gln453Ter | |
| NM_001293105.1:c.1270C>T | NP_001280034.1:p.Gln424Ter | |
| NR_120531.1:n.1973C>T | ||
| XM_005250297.3:c.1774C>T | XP_005250354.1:p.Gln592Ter | |
| XM_011516113.1:c.1426C>T | XP_011514415.1:p.Gln476Ter | |
| XM_011516114.1:c.1255C>T | XP_011514416.1:p.Gln419Ter | |
| XM_005250297.4:c.1774C>T | XP_005250354.1:p.Gln592Ter | |
| XM_011516114.2:c.1255C>T | XP_011514416.1:p.Gln419Ter | |
| XM_017012091.1:c.1273C>T | XP_016867580.1:p.Gln425Ter | |
| XM_017012092.1:c.1204C>T | XP_016867581.1:p.Gln402Ter | |
| XM_017012093.2:c.1102C>T | XP_016867582.1:p.Gln368Ter | |
| XR_001744658.2:n.1734C>T | ||
| XR_001744659.2:n.1847C>T | ||
| XR_001744660.2:n.1779C>T | ||
| XR_001744661.2:n.1694C>T | ||
| XR_927461.3:n.1932C>T | ||
| NM_000181.4:c.1927C>T MANE Select | NP_000172.2:p.Gln643Ter | |
| NM_001284290.2:c.1489C>T | NP_001271219.1:p.Gln497Ter | |
| NM_001293104.2:c.1357C>T | NP_001280033.1:p.Gln453Ter | |
| NM_001293105.2:c.1270C>T | NP_001280034.1:p.Gln424Ter | |
| NR_120531.2:n.1872C>T |