Linked Data
dbSNP Id:
rs766019399
ExAC:
7:65425938 C / T
gnomAD v2:
7-65425938-C-T
gnomAD v4:
7-65960951-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960951C>T , CM000669.2:g.65960951C>T | GRCh38 |
| NC_000007.13:g.65425938C>T , CM000669.1:g.65425938C>T | GRCh37 |
| NC_000007.12:g.65063373C>T | NCBI36 |
| NG_016197.1:g.26364G>A | |
| NG_051954.1:g.92853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1902G>A MANE Select | ENSP00000302728.4:p.Arg634= | |
| ENST00000304895.8:c.1902G>A | ENSP00000302728.4:p.Arg634= | |
| ENST00000421103.5:c.1464G>A | ENSP00000391390.1:p.Arg488= | |
| ENST00000430730.5:c.*1169G>A | ENSP00000411859.1:n.*1169G>A | |
| ENST00000447929.5:c.*1282G>A | ENSP00000411262.1:n.*1282G>A | |
| ENST00000466883.5:n.2292G>A | ||
| NM_000181.3:c.1902G>A | NP_000172.2:p.Arg634= | |
| NM_001284290.1:c.1464G>A | NP_001271219.1:p.Arg488= | |
| NM_001293104.1:c.1332G>A | NP_001280033.1:p.Arg444= | |
| NM_001293105.1:c.1245G>A | NP_001280034.1:p.Arg415= | |
| NR_120531.1:n.1948G>A | ||
| XM_005250297.3:c.1749G>A | XP_005250354.1:p.Arg583= | |
| XM_011516113.1:c.1401G>A | XP_011514415.1:p.Arg467= | |
| XM_011516114.1:c.1230G>A | XP_011514416.1:p.Arg410= | |
| XM_005250297.4:c.1749G>A | XP_005250354.1:p.Arg583= | |
| XM_011516114.2:c.1230G>A | XP_011514416.1:p.Arg410= | |
| XM_017012091.1:c.1248G>A | XP_016867580.1:p.Arg416= | |
| XM_017012092.1:c.1179G>A | XP_016867581.1:p.Arg393= | |
| XM_017012093.2:c.1077G>A | XP_016867582.1:p.Arg359= | |
| XR_001744658.2:n.1709G>A | ||
| XR_001744659.2:n.1822G>A | ||
| XR_001744660.2:n.1754G>A | ||
| XR_001744661.2:n.1669G>A | ||
| XR_927461.3:n.1907G>A | ||
| NM_000181.4:c.1902G>A MANE Select | NP_000172.2:p.Arg634= | |
| NM_001284290.2:c.1464G>A | NP_001271219.1:p.Arg488= | |
| NM_001293104.2:c.1332G>A | NP_001280033.1:p.Arg444= | |
| NM_001293105.2:c.1245G>A | NP_001280034.1:p.Arg415= | |
| NR_120531.2:n.1847G>A |