Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400773C= , CM000670.2:g.18400773C= | GRCh38 |
| NC_000008.10:g.18258283C= , CM000670.1:g.18258283C= | GRCh37 |
| NC_000008.9:g.18302563C= | NCBI36 |
| NG_012246.1:g.14529C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.770C= MANE Select | ENSP00000286479.3:p.Thr257= | |
| ENST00000286479.3:c.770C= | ENSP00000286479.3:p.Thr257= | |
| ENST00000520116.1:c.380C= | ENSP00000428416.1:p.Thr127= | |
| NM_000015.2:c.770C= | NP_000006.2:p.Thr257= | |
| XM_011544358.1:c.770C= | XP_011542660.1:p.Thr257= | |
| XM_017012938.1:c.770C= | XP_016868427.1:p.Thr257= | |
| NM_000015.3:c.770C= MANE Select | NP_000006.2:p.Thr257= |