Linked Data
dbSNP Id:
rs776024156
ExAC:
7:65425898 T / C
gnomAD v2:
7-65425898-T-C
gnomAD v3:
7-65960911-T-C
gnomAD v4:
7-65960911-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960911T>C , CM000669.2:g.65960911T>C | GRCh38 |
| NC_000007.13:g.65425898T>C , CM000669.1:g.65425898T>C | GRCh37 |
| NC_000007.12:g.65063333T>C | NCBI36 |
| NG_016197.1:g.26404A>G | |
| NG_051954.1:g.92813T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1942A>G MANE Select | ENSP00000302728.4:p.Ser648Gly | |
| ENST00000304895.8:c.1942A>G | ENSP00000302728.4:p.Ser648Gly | |
| ENST00000421103.5:c.1504A>G | ENSP00000391390.1:p.Ser502Gly | |
| ENST00000430730.5:c.*1209A>G | ENSP00000411859.1:n.*1209A>G | |
| ENST00000447929.5:c.*1322A>G | ENSP00000411262.1:n.*1322A>G | |
| ENST00000466883.5:n.2332A>G | ||
| NM_000181.3:c.1942A>G | NP_000172.2:p.Ser648Gly | |
| NM_001284290.1:c.1504A>G | NP_001271219.1:p.Ser502Gly | |
| NM_001293104.1:c.1372A>G | NP_001280033.1:p.Ser458Gly | |
| NM_001293105.1:c.1285A>G | NP_001280034.1:p.Ser429Gly | |
| NR_120531.1:n.1988A>G | ||
| XM_005250297.3:c.1789A>G | XP_005250354.1:p.Ser597Gly | |
| XM_011516113.1:c.1441A>G | XP_011514415.1:p.Ser481Gly | |
| XM_011516114.1:c.1270A>G | XP_011514416.1:p.Ser424Gly | |
| XM_005250297.4:c.1789A>G | XP_005250354.1:p.Ser597Gly | |
| XM_011516114.2:c.1270A>G | XP_011514416.1:p.Ser424Gly | |
| XM_017012091.1:c.1288A>G | XP_016867580.1:p.Ser430Gly | |
| XM_017012092.1:c.1219A>G | XP_016867581.1:p.Ser407Gly | |
| XM_017012093.2:c.1117A>G | XP_016867582.1:p.Ser373Gly | |
| XR_001744658.2:n.1749A>G | ||
| XR_001744659.2:n.1862A>G | ||
| XR_001744660.2:n.1794A>G | ||
| XR_001744661.2:n.1709A>G | ||
| XR_927461.3:n.1947A>G | ||
| NM_000181.4:c.1942A>G MANE Select | NP_000172.2:p.Ser648Gly | |
| NM_001284290.2:c.1504A>G | NP_001271219.1:p.Ser502Gly | |
| NM_001293104.2:c.1372A>G | NP_001280033.1:p.Ser458Gly | |
| NM_001293105.2:c.1285A>G | NP_001280034.1:p.Ser429Gly | |
| NR_120531.2:n.1887A>G |