Linked Data
dbSNP Id:
rs751840849
ExAC:
7:65425973 G / A
gnomAD v2:
7-65425973-G-A
gnomAD v4:
7-65960986-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960986G>A , CM000669.2:g.65960986G>A | GRCh38 |
| NC_000007.13:g.65425973G>A , CM000669.1:g.65425973G>A | GRCh37 |
| NC_000007.12:g.65063408G>A | NCBI36 |
| NG_016197.1:g.26329C>T | |
| NG_051954.1:g.92888G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1867C>T MANE Select | ENSP00000302728.4:p.Arg623Ter | |
| ENST00000304895.8:c.1867C>T | ENSP00000302728.4:p.Arg623Ter | |
| ENST00000421103.5:c.1429C>T | ENSP00000391390.1:p.Arg477Ter | |
| ENST00000430730.5:c.*1134C>T | ENSP00000411859.1:n.*1134C>T | |
| ENST00000447929.5:c.*1247C>T | ENSP00000411262.1:n.*1247C>T | |
| ENST00000466883.5:n.2257C>T | ||
| NM_000181.3:c.1867C>T | NP_000172.2:p.Arg623Ter | |
| NM_001284290.1:c.1429C>T | NP_001271219.1:p.Arg477Ter | |
| NM_001293104.1:c.1297C>T | NP_001280033.1:p.Arg433Ter | |
| NM_001293105.1:c.1210C>T | NP_001280034.1:p.Arg404Ter | |
| NR_120531.1:n.1913C>T | ||
| XM_005250297.3:c.1714C>T | XP_005250354.1:p.Arg572Ter | |
| XM_011516113.1:c.1366C>T | XP_011514415.1:p.Arg456Ter | |
| XM_011516114.1:c.1195C>T | XP_011514416.1:p.Arg399Ter | |
| XM_005250297.4:c.1714C>T | XP_005250354.1:p.Arg572Ter | |
| XM_011516114.2:c.1195C>T | XP_011514416.1:p.Arg399Ter | |
| XM_017012091.1:c.1213C>T | XP_016867580.1:p.Arg405Ter | |
| XM_017012092.1:c.1144C>T | XP_016867581.1:p.Arg382Ter | |
| XM_017012093.2:c.1042C>T | XP_016867582.1:p.Arg348Ter | |
| XR_001744658.2:n.1674C>T | ||
| XR_001744659.2:n.1787C>T | ||
| XR_001744660.2:n.1719C>T | ||
| XR_001744661.2:n.1634C>T | ||
| XR_927461.3:n.1872C>T | ||
| NM_000181.4:c.1867C>T MANE Select | NP_000172.2:p.Arg623Ter | |
| NM_001284290.2:c.1429C>T | NP_001271219.1:p.Arg477Ter | |
| NM_001293104.2:c.1297C>T | NP_001280033.1:p.Arg433Ter | |
| NM_001293105.2:c.1210C>T | NP_001280034.1:p.Arg404Ter | |
| NR_120531.2:n.1812C>T |