Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30724915G>A , CM000678.2:g.30724915G>A | GRCh38 |
| NC_000016.9:g.30736236G>A , CM000678.1:g.30736236G>A | GRCh37 |
| NC_000016.8:g.30643737G>A | NCBI36 |
| NG_032135.1:g.30775G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.5491G>A MANE Select | NP_006653.2:p.Ala1831Thr |
| ENST00000262518.9:c.5491G>A MANE Select | ENSP00000262518.4:p.Ala1831Thr |
| NM_006662.2:c.5491G>A | NP_006653.2:p.Ala1831Thr |
| ENST00000262518.8:c.5491G>A | ENSP00000262518.4:p.Ala1831Thr |
| ENST00000380361.7:c.4960G>A | ENSP00000369719.3:p.Ala1654Thr |
| ENST00000395059.6:c.4714G>A | ENSP00000378499.3:p.Ala1572Thr |
| ENST00000411466.7:c.5491G>A | ENSP00000405186.3:p.Ala1831Thr |
| ENST00000483083.3:c.4590G>A | |
| ENST00000706321.1:c.5491G>A | ENSP00000516346.1:p.Ala1831Thr |