Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.3322302G>A , CM000685.2:g.3322302G>A | GRCh38 |
| NC_000023.10:g.3240343G>A , CM000685.1:g.3240343G>A | GRCh37 |
| NC_000023.9:g.3250343G>A | NCBI36 |
| NG_021336.1:g.29342C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217939.7:c.3383C>T MANE Select | ENSP00000217939.5:p.Ala1128Val | |
| ENST00000217939.6:c.3383C>T | ENSP00000217939.5:p.Ala1128Val | |
| NM_015419.3:c.3383C>T | NP_056234.2:p.Ala1128Val | |
| XM_005274485.1:c.3458C>T | XP_005274542.1:p.Ala1153Val | |
| NM_015419.4:c.3383C>T MANE Select | NP_056234.2:p.Ala1128Val |