Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41089049C>G , CM000681.2:g.41089049C>G | GRCh38 |
| NC_000019.9:g.41594954C>G , CM000681.1:g.41594954C>G | GRCh37 |
| NC_000019.8:g.46286794C>G | NCBI36 |
| NG_007928.1:g.5587C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000766.5:c.301C>G MANE Select | NP_000757.2:p.Arg101Gly |
| ENST00000330436.4:c.301C>G MANE Select | ENSP00000332679.1:p.Arg101Gly |
| NM_000766.4:c.301C>G | NP_000757.2:p.Arg101Gly |
| ENST00000330436.3:c.301C>G | ENSP00000332679.1:p.Arg101Gly |