Linked Data
gnomAD v3:
7-65961059-C-A
gnomAD v4:
7-65961059-C-A
MyVariant Identifiers:
chr7:g.65426046C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961059C>A , CM000669.2:g.65961059C>A | GRCh38 |
| NC_000007.13:g.65426046C>A , CM000669.1:g.65426046C>A | GRCh37 |
| NC_000007.12:g.65063481C>A | NCBI36 |
| NG_016197.1:g.26256G>T | |
| NG_051954.1:g.92961C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1794G>T MANE Select | ENSP00000302728.4:p.Pro598= | |
| ENST00000304895.8:c.1794G>T | ENSP00000302728.4:p.Pro598= | |
| ENST00000421103.5:c.1356G>T | ENSP00000391390.1:p.Pro452= | |
| ENST00000430730.5:c.*1061G>T | ENSP00000411859.1:n.*1061G>T | |
| ENST00000447929.5:c.*1174G>T | ENSP00000411262.1:n.*1174G>T | |
| ENST00000466883.5:n.2184G>T | ||
| NM_000181.3:c.1794G>T | NP_000172.2:p.Pro598= | |
| NM_001284290.1:c.1356G>T | NP_001271219.1:p.Pro452= | |
| NM_001293104.1:c.1224G>T | NP_001280033.1:p.Pro408= | |
| NM_001293105.1:c.1137G>T | NP_001280034.1:p.Pro379= | |
| NR_120531.1:n.1840G>T | ||
| XM_005250297.3:c.1641G>T | XP_005250354.1:p.Pro547= | |
| XM_011516113.1:c.1293G>T | XP_011514415.1:p.Pro431= | |
| XM_011516114.1:c.1122G>T | XP_011514416.1:p.Pro374= | |
| XM_005250297.4:c.1641G>T | XP_005250354.1:p.Pro547= | |
| XM_011516114.2:c.1122G>T | XP_011514416.1:p.Pro374= | |
| XM_017012091.1:c.1140G>T | XP_016867580.1:p.Pro380= | |
| XM_017012092.1:c.1071G>T | XP_016867581.1:p.Pro357= | |
| XM_017012093.2:c.969G>T | XP_016867582.1:p.Pro323= | |
| XR_001744658.2:n.1601G>T | ||
| XR_001744659.2:n.1714G>T | ||
| XR_001744660.2:n.1646G>T | ||
| XR_001744661.2:n.1561G>T | ||
| XR_927461.3:n.1799G>T | ||
| NM_000181.4:c.1794G>T MANE Select | NP_000172.2:p.Pro598= | |
| NM_001284290.2:c.1356G>T | NP_001271219.1:p.Pro452= | |
| NM_001293104.2:c.1224G>T | NP_001280033.1:p.Pro408= | |
| NM_001293105.2:c.1137G>T | NP_001280034.1:p.Pro379= | |
| NR_120531.2:n.1739G>T |