ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.158926213C>T , CM000669.2:g.158926213C>T | GRCh38 |
| NC_000007.13:g.158718904C>T , CM000669.1:g.158718904C>T | GRCh37 |
| NC_000007.12:g.158411665C>T | NCBI36 |
| NG_034051.1:g.74636C>T | |
| NG_034051.2:g.91969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407559.8:c.2284C>T MANE Select | ENSP00000384290.3:p.Arg762Ter | |
| ENST00000407559.7:c.2284C>T | ENSP00000384290.3:p.Arg762Ter | |
| ENST00000444851.5:c.1442C>T | ENSP00000392608.1:p.Pro481Leu | |
| ENST00000467220.1:n.4083C>T | ||
| NM_018051.4:c.2284C>T | NP_060521.4:p.Arg762Ter | |
| XM_005249549.1:c.1720C>T | XP_005249606.1:p.Arg574Ter | |
| XM_005249550.1:c.823C>T | XP_005249607.1:p.Arg275Ter | |
| XM_006716041.1:c.2293C>T | XP_006716104.1:p.Arg765Ter | |
| XM_011516367.1:c.2293C>T | XP_011514669.1:p.Arg765Ter | |
| XM_011516368.1:c.2293C>T | XP_011514670.1:p.Arg765Ter | |
| XM_011516369.1:c.2155C>T | XP_011514671.1:p.Arg719Ter | |
| XR_242045.1:n.2436C>T | ||
| XR_428179.1:n.2447C>T | ||
| XR_927485.1:n.2274C>T | ||
| XR_927486.1:n.2265C>T | ||
| NM_001350914.1:c.2146C>T | NP_001337843.1:p.Arg716Ter | |
| NM_001350915.1:c.1711C>T | NP_001337844.1:p.Arg571Ter | |
| NM_001350916.1:c.823C>T | NP_001337845.1:p.Arg275Ter | |
| NM_001350917.1:c.1036C>T | NP_001337846.1:p.Arg346Ter | |
| NM_001350918.1:c.1036C>T | NP_001337847.1:p.Arg346Ter | |
| XM_006716041.2:c.2293C>T | XP_006716104.1:p.Arg765Ter | |
| XM_011516367.2:c.2293C>T | XP_011514669.1:p.Arg765Ter | |
| XM_011516368.2:c.2293C>T | XP_011514670.1:p.Arg765Ter | |
| XM_011516369.2:c.2155C>T | XP_011514671.1:p.Arg719Ter | |
| XM_017012381.2:c.2155C>T | XP_016867870.1:p.Arg719Ter | |
| XM_017012382.1:c.2284C>T | XP_016867871.1:p.Arg762Ter | |
| XM_017012388.1:c.823C>T | XP_016867877.1:p.Arg275Ter | |
| XR_001744823.1:n.2466C>T | ||
| XR_001744824.1:n.2466C>T | ||
| XR_001744825.1:n.2466C>T | ||
| XR_001744826.1:n.2466C>T | ||
| XR_001744827.1:n.2455C>T | ||
| XR_001744828.1:n.2293C>T | ||
| XR_002956461.1:n.2457C>T | ||
| XR_242045.2:n.2455C>T | ||
| XR_428179.2:n.2466C>T | ||
| XR_927486.2:n.2284C>T | ||
| NM_018051.5:c.2284C>T MANE Select | NP_060521.4:p.Arg762Ter | |
| NM_001350915.2:c.1711C>T | NP_001337844.1:p.Arg571Ter | |
| NM_001350916.2:c.823C>T | NP_001337845.1:p.Arg275Ter | |
| NM_001350917.2:c.1036C>T | NP_001337846.1:p.Arg346Ter | |
| NM_001350918.2:c.1036C>T | NP_001337847.1:p.Arg346Ter | |
| NM_001350914.2:c.2146C>T | NP_001337843.1:p.Arg716Ter |