Linked Data
ClinVar Variation Id:
2104283
ClinVar RCV Id:
RCV003031304
gnomAD v4:
7-65960948-A-G
MyVariant Identifiers:
chr7:g.65425935A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960948A>G , CM000669.2:g.65960948A>G | GRCh38 |
| NC_000007.13:g.65425935A>G , CM000669.1:g.65425935A>G | GRCh37 |
| NC_000007.12:g.65063370A>G | NCBI36 |
| NG_016197.1:g.26367T>C | |
| NG_051954.1:g.92850A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1905T>C MANE Select | ENSP00000302728.4:p.Tyr635= | |
| ENST00000304895.8:c.1905T>C | ENSP00000302728.4:p.Tyr635= | |
| ENST00000421103.5:c.1467T>C | ENSP00000391390.1:p.Tyr489= | |
| ENST00000430730.5:c.*1172T>C | ENSP00000411859.1:n.*1172T>C | |
| ENST00000447929.5:c.*1285T>C | ENSP00000411262.1:n.*1285T>C | |
| ENST00000466883.5:n.2295T>C | ||
| NM_000181.3:c.1905T>C | NP_000172.2:p.Tyr635= | |
| NM_001284290.1:c.1467T>C | NP_001271219.1:p.Tyr489= | |
| NM_001293104.1:c.1335T>C | NP_001280033.1:p.Tyr445= | |
| NM_001293105.1:c.1248T>C | NP_001280034.1:p.Tyr416= | |
| NR_120531.1:n.1951T>C | ||
| XM_005250297.3:c.1752T>C | XP_005250354.1:p.Tyr584= | |
| XM_011516113.1:c.1404T>C | XP_011514415.1:p.Tyr468= | |
| XM_011516114.1:c.1233T>C | XP_011514416.1:p.Tyr411= | |
| XM_005250297.4:c.1752T>C | XP_005250354.1:p.Tyr584= | |
| XM_011516114.2:c.1233T>C | XP_011514416.1:p.Tyr411= | |
| XM_017012091.1:c.1251T>C | XP_016867580.1:p.Tyr417= | |
| XM_017012092.1:c.1182T>C | XP_016867581.1:p.Tyr394= | |
| XM_017012093.2:c.1080T>C | XP_016867582.1:p.Tyr360= | |
| XR_001744658.2:n.1712T>C | ||
| XR_001744659.2:n.1825T>C | ||
| XR_001744660.2:n.1757T>C | ||
| XR_001744661.2:n.1672T>C | ||
| XR_927461.3:n.1910T>C | ||
| NM_000181.4:c.1905T>C MANE Select | NP_000172.2:p.Tyr635= | |
| NM_001284290.2:c.1467T>C | NP_001271219.1:p.Tyr489= | |
| NM_001293104.2:c.1335T>C | NP_001280033.1:p.Tyr445= | |
| NM_001293105.2:c.1248T>C | NP_001280034.1:p.Tyr416= | |
| NR_120531.2:n.1850T>C |