ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23644619G>A , CM000677.2:g.23644619G>A | GRCh38 |
| NC_000015.9:g.23889766G>A , CM000677.1:g.23889766G>A | GRCh37 |
| NC_000015.8:g.21440859G>A | NCBI36 |
| NG_016776.1:g.8228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650528.1:c.3124C>T MANE Select | ENSP00000497810.1:p.Gln1042Ter | |
| ENST00000532292.2:c.3124C>T | ENSP00000433433.2:p.Gln1042Ter | |
| NM_019066.4:c.3124C>T | NP_061939.3:p.Gln1042Ter | |
| NM_019066.5:c.3124C>T MANE Select | NP_061939.3:p.Gln1042Ter |