Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118702T>A , CM000676.2:g.50118702T>A | GRCh38 |
| NC_000014.8:g.50585420T>A , CM000676.1:g.50585420T>A | GRCh37 |
| NC_000014.7:g.49655170T>A | NCBI36 |
| NG_051073.1:g.117992A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.3641A>T MANE Select | NP_008870.2:p.Asp1214Val |
| ENST00000216373.10:c.3641A>T MANE Select | ENSP00000216373.5:p.Asp1214Val |
| NM_006939.2:c.3641A>T | NP_008870.2:p.Asp1214Val |
| NM_006939.3:c.3641A>T | NP_008870.2:p.Asp1214Val |
| ENST00000216373.9:c.3641A>T | ENSP00000216373.5:p.Asp1214Val |
| ENST00000543680.5:c.3542A>T | ENSP00000445328.1:p.Asp1181Val |
| XM_005268021.1:c.3461A>T | XP_005268078.1:p.Asp1154Val |
| XM_011537103.1:c.3602A>T | XP_011535405.1:p.Asp1201Val |