Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63066056G>C , CM000670.2:g.63066056G>C | GRCh38 |
| NC_000008.10:g.63978615G>C , CM000670.1:g.63978615G>C | GRCh37 |
| NC_000008.9:g.64141169G>C | NCBI36 |
| NG_016123.1:g.24998C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.400C>G MANE Select | ENSP00000260116.4:p.Arg134Gly | |
| ENST00000260116.4:c.400C>G | ENSP00000260116.4:p.Arg134Gly | |
| ENST00000521138.1:n.233-17453C>G | ||
| NM_000370.3:c.400C>G MANE Select | NP_000361.1:p.Arg134Gly | |
| XM_006716468.2:c.205-1740C>G | XP_006716531.1:n.205-1740C>G | |
| XM_006716468.4:c.205-1740C>G | XP_006716531.1:n.205-1740C>G |