ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64746948G>T , CM000673.2:g.64746948G>T | GRCh38 |
| NC_000011.9:g.64514420G>T , CM000673.1:g.64514420G>T | GRCh37 |
| NC_000011.8:g.64270996G>T | NCBI36 |
| NG_007574.1:g.3509C>A , LRG_100:g.3509C>A | |
| NG_013018.1:g.18768C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2352C>A MANE Select | ENSP00000164139.3:p.Cys784Ter | |
| ENST00000164139.3:c.2352C>A | ENSP00000164139.3:p.Cys784Ter | |
| ENST00000377432.7:c.2088C>A | ENSP00000366650.3:p.Cys696Ter | |
| ENST00000483742.1:n.1705C>A | ||
| NM_001164716.1:c.2088C>A | NP_001158188.1:p.Cys696Ter | |
| NM_005609.2:c.2352C>A | NP_005600.1:p.Cys784Ter | |
| NM_005609.3:c.2352C>A | NP_005600.1:p.Cys784Ter | |
| NM_005609.4:c.2352C>A MANE Select | NP_005600.1:p.Cys784Ter |