ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142498619G>A , CM000665.2:g.142498619G>A | GRCh38 |
| NC_000003.11:g.142217461G>A , CM000665.1:g.142217461G>A | GRCh37 |
| NC_000003.10:g.143700151G>A | NCBI36 |
| NG_008951.1:g.85208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350721.9:c.5536C>T MANE Select | ENSP00000343741.4:p.Arg1846Ter | |
| ENST00000513291.2:n.720C>T | ||
| ENST00000653868.1:n.5565C>T | ||
| ENST00000656590.1:c.4326C>T | ||
| ENST00000661310.1:c.5344C>T | ENSP00000499589.1:p.Arg1782Ter | |
| ENST00000666943.1:n.1000C>T | ||
| ENST00000350721.8:c.5536C>T | ENSP00000343741.4:p.Arg1846Ter | |
| ENST00000507620.2:n.632C>T | ||
| ENST00000514393.5:n.219C>T | ||
| NM_001184.3:c.5536C>T | NP_001175.2:p.Arg1846Ter | |
| XM_011512924.1:c.5542C>T | XP_011511226.1:p.Arg1848Ter | |
| XM_011512925.1:c.5350C>T | XP_011511227.1:p.Arg1784Ter | |
| XM_011512926.1:c.5542C>T | XP_011511228.1:p.Arg1848Ter | |
| XM_011512927.1:c.5542C>T | XP_011511229.1:p.Arg1848Ter | |
| XR_924147.1:n.5631C>T | ||
| XR_924148.1:n.5631C>T | ||
| XR_924149.1:n.5631C>T | ||
| NM_001354579.1:c.5344C>T | NP_001341508.1:p.Arg1782Ter | |
| XR_001740179.2:n.5625C>T | ||
| XR_001740180.2:n.5631C>T | ||
| XR_001740181.2:n.5631C>T | ||
| XR_001740182.1:n.5631C>T | ||
| XR_002959543.1:n.5631C>T | ||
| XR_924148.2:n.5631C>T | ||
| NM_001184.4:c.5536C>T MANE Select | NP_001175.2:p.Arg1846Ter | |
| NM_001354579.2:c.5344C>T | NP_001341508.1:p.Arg1782Ter |