Linked Data
dbSNP Id:
rs1790933779
gnomAD v4:
7-65967815-G-T
MyVariant Identifiers:
chr7:g.65432802G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65967815G>T , CM000669.2:g.65967815G>T | GRCh38 |
| NC_000007.13:g.65432802G>T , CM000669.1:g.65432802G>T | GRCh37 |
| NC_000007.12:g.65070237G>T | NCBI36 |
| NG_016197.1:g.19500C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1569C>A MANE Select | ENSP00000302728.4:p.Thr523= | |
| ENST00000304895.8:c.1569C>A | ENSP00000302728.4:p.Thr523= | |
| ENST00000421103.5:c.1131C>A | ENSP00000391390.1:p.Thr377= | |
| ENST00000430730.5:c.*836C>A | ENSP00000411859.1:n.*836C>A | |
| ENST00000447929.5:c.*949C>A | ENSP00000411262.1:n.*949C>A | |
| ENST00000461622.1:n.94C>A | ||
| ENST00000462371.1:n.607C>A | ||
| ENST00000466883.5:n.1959C>A | ||
| NM_000181.3:c.1569C>A | NP_000172.2:p.Thr523= | |
| NM_001284290.1:c.1131C>A | NP_001271219.1:p.Thr377= | |
| NM_001293104.1:c.999C>A | NP_001280033.1:p.Thr333= | |
| NM_001293105.1:c.912C>A | NP_001280034.1:p.Thr304= | |
| NR_120531.1:n.1615C>A | ||
| XM_005250297.3:c.1416C>A | XP_005250354.1:p.Thr472= | |
| XM_011516113.1:c.1068C>A | XP_011514415.1:p.Thr356= | |
| XM_011516114.1:c.897C>A | XP_011514416.1:p.Thr299= | |
| XR_927461.1:n.1655C>A | ||
| XM_005250297.4:c.1416C>A | XP_005250354.1:p.Thr472= | |
| XM_011516114.2:c.897C>A | XP_011514416.1:p.Thr299= | |
| XM_017012091.1:c.915C>A | XP_016867580.1:p.Thr305= | |
| XM_017012092.1:c.846C>A | XP_016867581.1:p.Thr282= | |
| XM_017012093.2:c.744C>A | XP_016867582.1:p.Thr248= | |
| XR_001744658.2:n.1376C>A | ||
| XR_001744659.2:n.1489C>A | ||
| XR_001744660.2:n.1421C>A | ||
| XR_001744661.2:n.1336C>A | ||
| XR_927461.3:n.1574C>A | ||
| NM_000181.4:c.1569C>A MANE Select | NP_000172.2:p.Thr523= | |
| NM_001284290.2:c.1131C>A | NP_001271219.1:p.Thr377= | |
| NM_001293104.2:c.999C>A | NP_001280033.1:p.Thr333= | |
| NM_001293105.2:c.912C>A | NP_001280034.1:p.Thr304= | |
| NR_120531.2:n.1514C>A |