Linked Data
dbSNP Id:
rs762241590
ExAC:
7:65426038 A / C
gnomAD v2:
7-65426038-A-C
gnomAD v3:
7-65961051-A-C
gnomAD v4:
7-65961051-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961051A>C , CM000669.2:g.65961051A>C | GRCh38 |
| NC_000007.13:g.65426038A>C , CM000669.1:g.65426038A>C | GRCh37 |
| NC_000007.12:g.65063473A>C | NCBI36 |
| NG_016197.1:g.26264T>G | |
| NG_051954.1:g.92953A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1802T>G MANE Select | ENSP00000302728.4:p.Val601Gly | |
| ENST00000304895.8:c.1802T>G | ENSP00000302728.4:p.Val601Gly | |
| ENST00000421103.5:c.1364T>G | ENSP00000391390.1:p.Val455Gly | |
| ENST00000430730.5:c.*1069T>G | ENSP00000411859.1:n.*1069T>G | |
| ENST00000447929.5:c.*1182T>G | ENSP00000411262.1:n.*1182T>G | |
| ENST00000466883.5:n.2192T>G | ||
| NM_000181.3:c.1802T>G | NP_000172.2:p.Val601Gly | |
| NM_001284290.1:c.1364T>G | NP_001271219.1:p.Val455Gly | |
| NM_001293104.1:c.1232T>G | NP_001280033.1:p.Val411Gly | |
| NM_001293105.1:c.1145T>G | NP_001280034.1:p.Val382Gly | |
| NR_120531.1:n.1848T>G | ||
| XM_005250297.3:c.1649T>G | XP_005250354.1:p.Val550Gly | |
| XM_011516113.1:c.1301T>G | XP_011514415.1:p.Val434Gly | |
| XM_011516114.1:c.1130T>G | XP_011514416.1:p.Val377Gly | |
| XM_005250297.4:c.1649T>G | XP_005250354.1:p.Val550Gly | |
| XM_011516114.2:c.1130T>G | XP_011514416.1:p.Val377Gly | |
| XM_017012091.1:c.1148T>G | XP_016867580.1:p.Val383Gly | |
| XM_017012092.1:c.1079T>G | XP_016867581.1:p.Val360Gly | |
| XM_017012093.2:c.977T>G | XP_016867582.1:p.Val326Gly | |
| XR_001744658.2:n.1609T>G | ||
| XR_001744659.2:n.1722T>G | ||
| XR_001744660.2:n.1654T>G | ||
| XR_001744661.2:n.1569T>G | ||
| XR_927461.3:n.1807T>G | ||
| NM_000181.4:c.1802T>G MANE Select | NP_000172.2:p.Val601Gly | |
| NM_001284290.2:c.1364T>G | NP_001271219.1:p.Val455Gly | |
| NM_001293104.2:c.1232T>G | NP_001280033.1:p.Val411Gly | |
| NM_001293105.2:c.1145T>G | NP_001280034.1:p.Val382Gly | |
| NR_120531.2:n.1747T>G |