Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32028999G>A , CM000668.2:g.32028999G>A | GRCh38 |
| NC_000006.11:g.31996776G>A , CM000668.1:g.31996776G>A | GRCh37 |
| NC_000006.10:g.32104754G>A | NCBI36 |
| NG_011639.1:g.19206G>A , LRG_138:g.19206G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001002029.4:c.3442G>A MANE Select | NP_001002029.3:p.Ala1148Thr |
| ENST00000435363.7:c.3442G>A MANE Select | ENSP00000415941.2:p.Ala1148Thr |
| NM_001002029.3:c.3442G>A , LRG_138t1:c.3442G>A | NP_001002029.3:p.Ala1148Thr |
| ENST00000425700.3:c.3442G>A | ENSP00000391933.2:p.Ala1148Thr |
| ENST00000435363.6:c.3442G>A | ENSP00000415941.2:p.Ala1148Thr |
| ENST00000647698.1:c.2148G>A | |
| ENST00000648821.1:n.2055G>A |