Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400683C>A , CM000670.2:g.18400683C>A | GRCh38 |
| NC_000008.10:g.18258193C>A , CM000670.1:g.18258193C>A | GRCh37 |
| NC_000008.9:g.18302473C>A | NCBI36 |
| NG_012246.1:g.14439C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.3:c.680C>A MANE Select | NP_000006.2:p.Thr227Asn |
| ENST00000286479.4:c.680C>A MANE Select | ENSP00000286479.3:p.Thr227Asn |
| NM_000015.2:c.680C>A | NP_000006.2:p.Thr227Asn |
| ENST00000286479.3:c.680C>A | ENSP00000286479.3:p.Thr227Asn |
| ENST00000520116.1:c.290C>A | ENSP00000428416.1:p.Thr97Asn |
| XM_011544358.1:c.680C>A | XP_011542660.1:p.Thr227Asn |
| XM_017012938.1:c.680C>A | XP_016868427.1:p.Thr227Asn |