Linked Data
ClinVar Variation Id:
2714036
ClinVar RCV Id:
RCV003496471
dbSNP Id:
rs1790456341
MyVariant Identifiers:
chr7:g.65426031C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961044C>T , CM000669.2:g.65961044C>T | GRCh38 |
| NC_000007.13:g.65426031C>T , CM000669.1:g.65426031C>T | GRCh37 |
| NC_000007.12:g.65063466C>T | NCBI36 |
| NG_016197.1:g.26271G>A | |
| NG_051954.1:g.92946C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1809G>A MANE Select | ENSP00000302728.4:p.Gly603= | |
| ENST00000304895.8:c.1809G>A | ENSP00000302728.4:p.Gly603= | |
| ENST00000421103.5:c.1371G>A | ENSP00000391390.1:p.Gly457= | |
| ENST00000430730.5:c.*1076G>A | ENSP00000411859.1:n.*1076G>A | |
| ENST00000447929.5:c.*1189G>A | ENSP00000411262.1:n.*1189G>A | |
| ENST00000466883.5:n.2199G>A | ||
| NM_000181.3:c.1809G>A | NP_000172.2:p.Gly603= | |
| NM_001284290.1:c.1371G>A | NP_001271219.1:p.Gly457= | |
| NM_001293104.1:c.1239G>A | NP_001280033.1:p.Gly413= | |
| NM_001293105.1:c.1152G>A | NP_001280034.1:p.Gly384= | |
| NR_120531.1:n.1855G>A | ||
| XM_005250297.3:c.1656G>A | XP_005250354.1:p.Gly552= | |
| XM_011516113.1:c.1308G>A | XP_011514415.1:p.Gly436= | |
| XM_011516114.1:c.1137G>A | XP_011514416.1:p.Gly379= | |
| XM_005250297.4:c.1656G>A | XP_005250354.1:p.Gly552= | |
| XM_011516114.2:c.1137G>A | XP_011514416.1:p.Gly379= | |
| XM_017012091.1:c.1155G>A | XP_016867580.1:p.Gly385= | |
| XM_017012092.1:c.1086G>A | XP_016867581.1:p.Gly362= | |
| XM_017012093.2:c.984G>A | XP_016867582.1:p.Gly328= | |
| XR_001744658.2:n.1616G>A | ||
| XR_001744659.2:n.1729G>A | ||
| XR_001744660.2:n.1661G>A | ||
| XR_001744661.2:n.1576G>A | ||
| XR_927461.3:n.1814G>A | ||
| NM_000181.4:c.1809G>A MANE Select | NP_000172.2:p.Gly603= | |
| NM_001284290.2:c.1371G>A | NP_001271219.1:p.Gly457= | |
| NM_001293104.2:c.1239G>A | NP_001280033.1:p.Gly413= | |
| NM_001293105.2:c.1152G>A | NP_001280034.1:p.Gly384= | |
| NR_120531.2:n.1754G>A |