ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25811694G>T , CM000663.2:g.25811694G>T | GRCh38 |
| NC_000001.10:g.26138185G>T , CM000663.1:g.26138185G>T | GRCh37 |
| NC_000001.9:g.26010772G>T | NCBI36 |
| NG_009930.1:g.16519G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.925G>T | ENSP00000346109.5:p.Glu309Ter | |
| ENST00000494537.2:c.994G>T | ENSP00000508308.1:p.Glu332Ter | |
| ENST00000361547.7:c.1096G>T MANE Select | ENSP00000355141.2:p.Glu366Ter | |
| ENST00000354177.8:c.994G>T | ENSP00000346109.4:p.Glu332Ter | |
| ENST00000361547.6:c.1096G>T | ENSP00000355141.2:p.Glu366Ter | |
| ENST00000374315.1:c.994G>T | ENSP00000363434.1:p.Glu332Ter | |
| ENST00000559265.1:n.70G>T | ||
| NM_020451.2:c.1096G>T | NP_065184.2:p.Glu366Ter | |
| NM_206926.1:c.994G>T | NP_996809.1:p.Glu332Ter | |
| NM_020451.3:c.1096G>T MANE Select | NP_065184.2:p.Glu366Ter | |
| NM_206926.2:c.994G>T | NP_996809.1:p.Glu332Ter |