Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42544224G>A , CM000679.2:g.42544224G>A | GRCh38 |
| NC_000017.10:g.40696242G>A , CM000679.1:g.40696242G>A | GRCh37 |
| NC_000017.9:g.37949768G>A | NCBI36 |
| NG_011552.1:g.13292G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.2218G>A MANE Select | ENSP00000225927.1:p.Ala740Thr | |
| ENST00000225927.6:c.2218G>A | ENSP00000225927.1:p.Ala740Thr | |
| NM_000263.3:c.2218G>A | NP_000254.2:p.Ala740Thr | |
| XM_006721920.2:c.1387G>A | XP_006721983.1:p.Ala463Thr | |
| XM_011524840.1:c.1219G>A | XP_011523142.1:p.Ala407Thr | |
| XM_017024687.1:c.1387G>A | XP_016880176.1:p.Ala463Thr | |
| XM_024450771.1:c.2275G>A | XP_024306539.1:p.Ala759Thr | |
| XM_024450772.1:c.1219G>A | XP_024306540.1:p.Ala407Thr | |
| NM_000263.4:c.2218G>A MANE Select | NP_000254.2:p.Ala740Thr |