Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23686353C>T , CM000677.2:g.23686353C>T | GRCh38 |
| NC_000015.9:g.23931500C>T , CM000677.1:g.23931500C>T | GRCh37 |
| NC_000015.8:g.21482593C>T | NCBI36 |
| NG_009380.1:g.5951G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002487.3:c.865G>A MANE Select | NP_002478.1:p.Ala289Thr |
| ENST00000649030.2:c.865G>A MANE Select | ENSP00000497916.1:p.Ala289Thr |
| NM_002487.2:c.865G>A | NP_002478.1:p.Ala289Thr |
| ENST00000331837.5:c.865G>A | ENSP00000332643.4:p.Ala289Thr |