Linked Data
dbSNP Id:
rs145910162
ExAC:
7:65425934 G / A
gnomAD v2:
7-65425934-G-A
gnomAD v3:
7-65960947-G-A
gnomAD v4:
7-65960947-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960947G>A , CM000669.2:g.65960947G>A | GRCh38 |
| NC_000007.13:g.65425934G>A , CM000669.1:g.65425934G>A | GRCh37 |
| NC_000007.12:g.65063369G>A | NCBI36 |
| NG_016197.1:g.26368C>T | |
| NG_051954.1:g.92849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1906C>T MANE Select | ENSP00000302728.4:p.Pro636Ser | |
| ENST00000304895.8:c.1906C>T | ENSP00000302728.4:p.Pro636Ser | |
| ENST00000421103.5:c.1468C>T | ENSP00000391390.1:p.Pro490Ser | |
| ENST00000430730.5:c.*1173C>T | ENSP00000411859.1:n.*1173C>T | |
| ENST00000447929.5:c.*1286C>T | ENSP00000411262.1:n.*1286C>T | |
| ENST00000466883.5:n.2296C>T | ||
| NM_000181.3:c.1906C>T | NP_000172.2:p.Pro636Ser | |
| NM_001284290.1:c.1468C>T | NP_001271219.1:p.Pro490Ser | |
| NM_001293104.1:c.1336C>T | NP_001280033.1:p.Pro446Ser | |
| NM_001293105.1:c.1249C>T | NP_001280034.1:p.Pro417Ser | |
| NR_120531.1:n.1952C>T | ||
| XM_005250297.3:c.1753C>T | XP_005250354.1:p.Pro585Ser | |
| XM_011516113.1:c.1405C>T | XP_011514415.1:p.Pro469Ser | |
| XM_011516114.1:c.1234C>T | XP_011514416.1:p.Pro412Ser | |
| XM_005250297.4:c.1753C>T | XP_005250354.1:p.Pro585Ser | |
| XM_011516114.2:c.1234C>T | XP_011514416.1:p.Pro412Ser | |
| XM_017012091.1:c.1252C>T | XP_016867580.1:p.Pro418Ser | |
| XM_017012092.1:c.1183C>T | XP_016867581.1:p.Pro395Ser | |
| XM_017012093.2:c.1081C>T | XP_016867582.1:p.Pro361Ser | |
| XR_001744658.2:n.1713C>T | ||
| XR_001744659.2:n.1826C>T | ||
| XR_001744660.2:n.1758C>T | ||
| XR_001744661.2:n.1673C>T | ||
| XR_927461.3:n.1911C>T | ||
| NM_000181.4:c.1906C>T MANE Select | NP_000172.2:p.Pro636Ser | |
| NM_001284290.2:c.1468C>T | NP_001271219.1:p.Pro490Ser | |
| NM_001293104.2:c.1336C>T | NP_001280033.1:p.Pro446Ser | |
| NM_001293105.2:c.1249C>T | NP_001280034.1:p.Pro417Ser | |
| NR_120531.2:n.1851C>T |