Linked Data
ClinVar Variation Id:
2737618
ClinVar RCV Id:
RCV003494780
MyVariant Identifiers:
chr7:g.65425914T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960927T>C , CM000669.2:g.65960927T>C | GRCh38 |
| NC_000007.13:g.65425914T>C , CM000669.1:g.65425914T>C | GRCh37 |
| NC_000007.12:g.65063349T>C | NCBI36 |
| NG_016197.1:g.26388A>G | |
| NG_051954.1:g.92829T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1926A>G MANE Select | ENSP00000302728.4:p.Ser642= | |
| ENST00000304895.8:c.1926A>G | ENSP00000302728.4:p.Ser642= | |
| ENST00000421103.5:c.1488A>G | ENSP00000391390.1:p.Ser496= | |
| ENST00000430730.5:c.*1193A>G | ENSP00000411859.1:n.*1193A>G | |
| ENST00000447929.5:c.*1306A>G | ENSP00000411262.1:n.*1306A>G | |
| ENST00000466883.5:n.2316A>G | ||
| NM_000181.3:c.1926A>G | NP_000172.2:p.Ser642= | |
| NM_001284290.1:c.1488A>G | NP_001271219.1:p.Ser496= | |
| NM_001293104.1:c.1356A>G | NP_001280033.1:p.Ser452= | |
| NM_001293105.1:c.1269A>G | NP_001280034.1:p.Ser423= | |
| NR_120531.1:n.1972A>G | ||
| XM_005250297.3:c.1773A>G | XP_005250354.1:p.Ser591= | |
| XM_011516113.1:c.1425A>G | XP_011514415.1:p.Ser475= | |
| XM_011516114.1:c.1254A>G | XP_011514416.1:p.Ser418= | |
| XM_005250297.4:c.1773A>G | XP_005250354.1:p.Ser591= | |
| XM_011516114.2:c.1254A>G | XP_011514416.1:p.Ser418= | |
| XM_017012091.1:c.1272A>G | XP_016867580.1:p.Ser424= | |
| XM_017012092.1:c.1203A>G | XP_016867581.1:p.Ser401= | |
| XM_017012093.2:c.1101A>G | XP_016867582.1:p.Ser367= | |
| XR_001744658.2:n.1733A>G | ||
| XR_001744659.2:n.1846A>G | ||
| XR_001744660.2:n.1778A>G | ||
| XR_001744661.2:n.1693A>G | ||
| XR_927461.3:n.1931A>G | ||
| NM_000181.4:c.1926A>G MANE Select | NP_000172.2:p.Ser642= | |
| NM_001284290.2:c.1488A>G | NP_001271219.1:p.Ser496= | |
| NM_001293104.2:c.1356A>G | NP_001280033.1:p.Ser452= | |
| NM_001293105.2:c.1269A>G | NP_001280034.1:p.Ser423= | |
| NR_120531.2:n.1871A>G |