Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016305G>C , CM000681.2:g.49016305G>C | GRCh38 |
| NC_000019.9:g.49519562G>C , CM000681.1:g.49519562G>C | GRCh37 |
| NC_000019.8:g.54211374G>C | NCBI36 |
| NG_011464.1:g.5786C>G | |
| NG_033041.1:g.27407G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000894.3:c.189C>G MANE Select | NP_000885.1:p.Arg63= |
| ENST00000649238.3:c.189C>G MANE Select | ENSP00000497294.2:p.Arg63= |
| NM_000894.2:c.189C>G | NP_000885.1:p.Arg63= |
| ENST00000221421.6:c.189C>G | ENSP00000221421.1:p.Arg63= |
| ENST00000391869.4:c.183C>G | ENSP00000375742.4:p.Arg61= |
| ENST00000649284.1:n.280C>G | |
| XM_011526975.1:c.237C>G | XP_011525277.1:p.Arg79= |