gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005807 (EAS)
Exomes Max Group AF
0.00004926 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35776274C>T , CM000667.2:g.35776274C>T | GRCh38 |
| NC_000005.9:g.35776376C>T , CM000667.1:g.35776376C>T | GRCh37 |
| NC_000005.8:g.35812133C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356031.8:c.4096C>T MANE Select | ENSP00000348314.3:p.Arg1366Ter | |
| ENST00000637061.1:c.168C>T | ||
| ENST00000637569.1:c.4096C>T | ENSP00000490886.1:p.Arg1366Ter | |
| ENST00000356031.7:c.4096C>T | ENSP00000348314.3:p.Arg1366Ter | |
| ENST00000440995.6:c.4081C>T | ENSP00000412125.2:p.Arg1361Ter | |
| ENST00000506526.5:c.48C>T | ||
| NM_024867.3:c.4096C>T | NP_079143.3:p.Arg1366Ter | |
| XM_005248376.3:c.4096C>T | XP_005248433.1:p.Arg1366Ter | |
| XM_005248377.2:c.4081C>T | XP_005248434.1:p.Arg1361Ter | |
| XM_006714501.2:c.4096C>T | XP_006714564.1:p.Arg1366Ter | |
| XM_011514135.1:c.4096C>T | XP_011512437.1:p.Arg1366Ter | |
| XM_011514136.1:c.4096C>T | XP_011512438.1:p.Arg1366Ter | |
| XM_011514137.1:c.4081C>T | XP_011512439.1:p.Arg1361Ter | |
| XM_011514138.1:c.4072C>T | XP_011512440.1:p.Arg1358Ter | |
| XM_011514139.1:c.4021C>T | XP_011512441.1:p.Arg1341Ter | |
| XM_011514140.1:c.3925C>T | XP_011512442.1:p.Arg1309Ter | |
| XM_011514141.1:c.3670C>T | XP_011512443.1:p.Arg1224Ter | |
| XM_011514142.1:c.4072C>T | XP_011512444.1:p.Arg1358Ter | |
| XM_011514143.1:c.661C>T | XP_011512445.1:p.Arg221Ter | |
| XR_925655.1:n.4312C>T | ||
| XR_925656.1:n.4311C>T | ||
| XM_005248376.4:c.4096C>T | XP_005248433.1:p.Arg1366Ter | |
| XM_005248377.4:c.4081C>T | XP_005248434.1:p.Arg1361Ter | |
| XM_011514135.3:c.4096C>T | XP_011512437.1:p.Arg1366Ter | |
| XM_011514136.3:c.4096C>T | XP_011512438.1:p.Arg1366Ter | |
| XM_011514137.3:c.4081C>T | XP_011512439.1:p.Arg1361Ter | |
| XM_011514138.3:c.4072C>T | XP_011512440.1:p.Arg1358Ter | |
| XM_011514139.3:c.4021C>T | XP_011512441.1:p.Arg1341Ter | |
| XM_011514140.2:c.3925C>T | XP_011512442.1:p.Arg1309Ter | |
| XM_011514141.3:c.3670C>T | XP_011512443.1:p.Arg1224Ter | |
| XM_017009880.2:c.3910C>T | XP_016865369.1:p.Arg1304Ter | |
| XM_017009881.2:c.3670C>T | XP_016865370.1:p.Arg1224Ter | |
| XM_024446219.1:c.3850C>T | XP_024301987.1:p.Arg1284Ter | |
| XR_001742273.2:n.4199C>T | ||
| XR_001742634.1:n.1703+78046G>A | ||
| XR_001742635.1:n.1600+78046G>A | ||
| XR_925655.2:n.4199C>T | ||
| XR_925656.3:n.4199C>T | ||
| NM_024867.4:c.4096C>T MANE Select | NP_079143.3:p.Arg1366Ter |