Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400722C= , CM000670.2:g.18400722C= | GRCh38 |
| NC_000008.10:g.18258232C= , CM000670.1:g.18258232C= | GRCh37 |
| NC_000008.9:g.18302512C= | NCBI36 |
| NG_012246.1:g.14478C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.3:c.719C= MANE Select | NP_000006.2:p.Thr240= |
| ENST00000286479.4:c.719C= MANE Select | ENSP00000286479.3:p.Thr240= |
| NM_000015.2:c.719C= | NP_000006.2:p.Thr240= |
| ENST00000286479.3:c.719C= | ENSP00000286479.3:p.Thr240= |
| ENST00000520116.1:c.329C= | ENSP00000428416.1:p.Thr110= |
| XM_011544358.1:c.719C= | XP_011542660.1:p.Thr240= |
| XM_017012938.1:c.719C= | XP_016868427.1:p.Thr240= |