Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130385922T>A , CM000669.2:g.130385922T>A | GRCh38 |
| NC_000007.13:g.130025763T>A , CM000669.1:g.130025763T>A | GRCh37 |
| NC_000007.12:g.129812999T>A | NCBI36 |
| NG_042276.1:g.10552T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.1071T>A MANE Select | NP_001859.1:p.Ile357= |
| ENST00000011292.8:c.1071T>A MANE Select | ENSP00000011292.3:p.Ile357= |
| NM_001868.3:c.1071T>A | NP_001859.1:p.Ile357= |
| ENST00000011292.7:c.1071T>A | ENSP00000011292.3:p.Ile357= |
| ENST00000476062.5:c.807T>A | ENSP00000419408.1:p.Ile269= |
| ENST00000478096.1:n.795T>A | |
| ENST00000479106.1:n.1646T>A | |
| ENST00000484324.1:c.807T>A | ENSP00000419497.1:p.Ile269= |