Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63066056G>T , CM000670.2:g.63066056G>T | GRCh38 |
| NC_000008.10:g.63978615G>T , CM000670.1:g.63978615G>T | GRCh37 |
| NC_000008.9:g.64141169G>T | NCBI36 |
| NG_016123.1:g.24998C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.400C>A MANE Select | ENSP00000260116.4:p.Arg134= | |
| ENST00000260116.4:c.400C>A | ENSP00000260116.4:p.Arg134= | |
| ENST00000521138.1:n.233-17453C>A | ||
| NM_000370.3:c.400C>A MANE Select | NP_000361.1:p.Arg134= | |
| XM_006716468.2:c.205-1740C>A | XP_006716531.1:n.205-1740C>A | |
| XM_006716468.4:c.205-1740C>A | XP_006716531.1:n.205-1740C>A |