Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400194G= , CM000670.2:g.18400194G= | GRCh38 |
| NC_000008.10:g.18257704G= , CM000670.1:g.18257704G= | GRCh37 |
| NC_000008.9:g.18301984G= | NCBI36 |
| NG_012246.1:g.13950G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.3:c.191G= MANE Select | NP_000006.2:p.Arg64= |
| ENST00000286479.4:c.191G= MANE Select | ENSP00000286479.3:p.Arg64= |
| NM_000015.2:c.191G= | NP_000006.2:p.Arg64= |
| ENST00000286479.3:c.191G= | ENSP00000286479.3:p.Arg64= |
| ENST00000520116.1:c.-57-143G= | ENSP00000428416.1:n.-57-143G= |
| XM_011544358.1:c.191G= | XP_011542660.1:p.Arg64= |
| XM_017012938.1:c.191G= | XP_016868427.1:p.Arg64= |