Linked Data
dbSNP Id:
rs775873162
gnomAD v2:
7-65425990-C-G
gnomAD v3:
7-65961003-C-G
gnomAD v4:
7-65961003-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961003C>G , CM000669.2:g.65961003C>G | GRCh38 |
| NC_000007.13:g.65425990C>G , CM000669.1:g.65425990C>G | GRCh37 |
| NC_000007.12:g.65063425C>G | NCBI36 |
| NG_016197.1:g.26312G>C | |
| NG_051954.1:g.92905C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1850G>C MANE Select | ENSP00000302728.4:p.Ser617Thr | |
| ENST00000304895.8:c.1850G>C | ENSP00000302728.4:p.Ser617Thr | |
| ENST00000421103.5:c.1412G>C | ENSP00000391390.1:p.Ser471Thr | |
| ENST00000430730.5:c.*1117G>C | ENSP00000411859.1:n.*1117G>C | |
| ENST00000447929.5:c.*1230G>C | ENSP00000411262.1:n.*1230G>C | |
| ENST00000466883.5:n.2240G>C | ||
| NM_000181.3:c.1850G>C | NP_000172.2:p.Ser617Thr | |
| NM_001284290.1:c.1412G>C | NP_001271219.1:p.Ser471Thr | |
| NM_001293104.1:c.1280G>C | NP_001280033.1:p.Ser427Thr | |
| NM_001293105.1:c.1193G>C | NP_001280034.1:p.Ser398Thr | |
| NR_120531.1:n.1896G>C | ||
| XM_005250297.3:c.1697G>C | XP_005250354.1:p.Ser566Thr | |
| XM_011516113.1:c.1349G>C | XP_011514415.1:p.Ser450Thr | |
| XM_011516114.1:c.1178G>C | XP_011514416.1:p.Ser393Thr | |
| XM_005250297.4:c.1697G>C | XP_005250354.1:p.Ser566Thr | |
| XM_011516114.2:c.1178G>C | XP_011514416.1:p.Ser393Thr | |
| XM_017012091.1:c.1196G>C | XP_016867580.1:p.Ser399Thr | |
| XM_017012092.1:c.1127G>C | XP_016867581.1:p.Ser376Thr | |
| XM_017012093.2:c.1025G>C | XP_016867582.1:p.Ser342Thr | |
| XR_001744658.2:n.1657G>C | ||
| XR_001744659.2:n.1770G>C | ||
| XR_001744660.2:n.1702G>C | ||
| XR_001744661.2:n.1617G>C | ||
| XR_927461.3:n.1855G>C | ||
| NM_000181.4:c.1850G>C MANE Select | NP_000172.2:p.Ser617Thr | |
| NM_001284290.2:c.1412G>C | NP_001271219.1:p.Ser471Thr | |
| NM_001293104.2:c.1280G>C | NP_001280033.1:p.Ser427Thr | |
| NM_001293105.2:c.1193G>C | NP_001280034.1:p.Ser398Thr | |
| NR_120531.2:n.1795G>C |