Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400599T>A , CM000670.2:g.18400599T>A | GRCh38 |
| NC_000008.10:g.18258109T>A , CM000670.1:g.18258109T>A | GRCh37 |
| NC_000008.9:g.18302389T>A | NCBI36 |
| NG_012246.1:g.14355T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.596T>A MANE Select | ENSP00000286479.3:p.Ile199Asn | |
| ENST00000286479.3:c.596T>A | ENSP00000286479.3:p.Ile199Asn | |
| ENST00000520116.1:c.206T>A | ENSP00000428416.1:p.Ile69Asn | |
| NM_000015.2:c.596T>A | NP_000006.2:p.Ile199Asn | |
| XM_011544358.1:c.596T>A | XP_011542660.1:p.Ile199Asn | |
| XM_017012938.1:c.596T>A | XP_016868427.1:p.Ile199Asn | |
| NM_000015.3:c.596T>A MANE Select | NP_000006.2:p.Ile199Asn |