ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751975C>A , CM000673.2:g.64751975C>A | GRCh38 |
| NC_000011.9:g.64519447C>A , CM000673.1:g.64519447C>A | GRCh37 |
| NC_000011.8:g.64276023C>A | NCBI36 |
| NG_013018.1:g.13741G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1717G>T MANE Select | ENSP00000164139.3:p.Glu573Ter | |
| ENST00000164139.3:c.1717G>T | ENSP00000164139.3:p.Glu573Ter | |
| ENST00000377432.7:c.1453G>T | ENSP00000366650.3:p.Glu485Ter | |
| ENST00000462303.1:n.41G>T | ||
| NM_001164716.1:c.1453G>T | NP_001158188.1:p.Glu485Ter | |
| NM_005609.2:c.1717G>T | NP_005600.1:p.Glu573Ter | |
| NM_005609.3:c.1717G>T | NP_005600.1:p.Glu573Ter | |
| NM_005609.4:c.1717G>T MANE Select | NP_005600.1:p.Glu573Ter |