Linked Data
ClinVar Variation Id:
1027384
ClinVar RCV Id:
RCV001644997
dbSNP Id:
rs1344332366
gnomAD v2:
7-65432720-G-A
gnomAD v3:
7-65967733-G-A
gnomAD v4:
7-65967733-G-A
COSMIC:
COSM6410973
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65967733G>A , CM000669.2:g.65967733G>A | GRCh38 |
| NC_000007.13:g.65432720G>A , CM000669.1:g.65432720G>A | GRCh37 |
| NC_000007.12:g.65070155G>A | NCBI36 |
| NG_016197.1:g.19582C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1651C>T MANE Select | ENSP00000302728.4:p.Gln551Ter | |
| ENST00000304895.8:c.1651C>T | ENSP00000302728.4:p.Gln551Ter | |
| ENST00000421103.5:c.1213C>T | ENSP00000391390.1:p.Gln405Ter | |
| ENST00000430730.5:c.*918C>T | ENSP00000411859.1:n.*918C>T | |
| ENST00000447929.5:c.*1031C>T | ENSP00000411262.1:n.*1031C>T | |
| ENST00000461622.1:n.176C>T | ||
| ENST00000462371.1:n.689C>T | ||
| ENST00000466883.5:n.2041C>T | ||
| NM_000181.3:c.1651C>T | NP_000172.2:p.Gln551Ter | |
| NM_001284290.1:c.1213C>T | NP_001271219.1:p.Gln405Ter | |
| NM_001293104.1:c.1081C>T | NP_001280033.1:p.Gln361Ter | |
| NM_001293105.1:c.994C>T | NP_001280034.1:p.Gln332Ter | |
| NR_120531.1:n.1697C>T | ||
| XM_005250297.3:c.1498C>T | XP_005250354.1:p.Gln500Ter | |
| XM_011516113.1:c.1150C>T | XP_011514415.1:p.Gln384Ter | |
| XM_011516114.1:c.979C>T | XP_011514416.1:p.Gln327Ter | |
| XR_927461.1:n.1737C>T | ||
| XM_005250297.4:c.1498C>T | XP_005250354.1:p.Gln500Ter | |
| XM_011516114.2:c.979C>T | XP_011514416.1:p.Gln327Ter | |
| XM_017012091.1:c.997C>T | XP_016867580.1:p.Gln333Ter | |
| XM_017012092.1:c.928C>T | XP_016867581.1:p.Gln310Ter | |
| XM_017012093.2:c.826C>T | XP_016867582.1:p.Gln276Ter | |
| XR_001744658.2:n.1458C>T | ||
| XR_001744659.2:n.1571C>T | ||
| XR_001744660.2:n.1503C>T | ||
| XR_001744661.2:n.1418C>T | ||
| XR_927461.3:n.1656C>T | ||
| NM_000181.4:c.1651C>T MANE Select | NP_000172.2:p.Gln551Ter | |
| NM_001284290.2:c.1213C>T | NP_001271219.1:p.Gln405Ter | |
| NM_001293104.2:c.1081C>T | NP_001280033.1:p.Gln361Ter | |
| NM_001293105.2:c.994C>T | NP_001280034.1:p.Gln332Ter | |
| NR_120531.2:n.1596C>T |