ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64752071C>A , CM000673.2:g.64752071C>A | GRCh38 |
| NC_000011.9:g.64519543C>A , CM000673.1:g.64519543C>A | GRCh37 |
| NC_000011.8:g.64276119C>A | NCBI36 |
| NG_013018.1:g.13645G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1621G>T MANE Select | ENSP00000164139.3:p.Glu541Ter | |
| ENST00000164139.3:c.1621G>T | ENSP00000164139.3:p.Glu541Ter | |
| ENST00000377432.7:c.1357G>T | ENSP00000366650.3:p.Glu453Ter | |
| NM_001164716.1:c.1357G>T | NP_001158188.1:p.Glu453Ter | |
| NM_005609.2:c.1621G>T | NP_005600.1:p.Glu541Ter | |
| NM_005609.3:c.1621G>T | NP_005600.1:p.Glu541Ter | |
| NM_005609.4:c.1621G>T MANE Select | NP_005600.1:p.Glu541Ter |