ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63086009G>A , CM000670.2:g.63086009G>A | GRCh38 |
| NC_000008.10:g.63998568G>A , CM000670.1:g.63998568G>A | GRCh37 |
| NC_000008.9:g.64161122G>A | NCBI36 |
| NG_016123.1:g.5045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.13C>T MANE Select | ENSP00000260116.4:p.Arg5Ter | |
| ENST00000260116.4:c.13C>T | ENSP00000260116.4:p.Arg5Ter | |
| ENST00000521138.1:n.41C>T | ||
| NM_000370.3:c.13C>T MANE Select | NP_000361.1:p.Arg5Ter | |
| XM_006716468.2:c.13C>T | XP_006716531.1:p.Arg5Ter | |
| XM_006716468.4:c.13C>T | XP_006716531.1:p.Arg5Ter |