Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118830A>C , CM000676.2:g.50118830A>C | GRCh38 |
| NC_000014.8:g.50585548A>C , CM000676.1:g.50585548A>C | GRCh37 |
| NC_000014.7:g.49655298A>C | NCBI36 |
| NG_051073.1:g.117864T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.3513T>G MANE Select | NP_008870.2:p.Asp1171Glu |
| ENST00000216373.10:c.3513T>G MANE Select | ENSP00000216373.5:p.Asp1171Glu |
| NM_006939.2:c.3513T>G | NP_008870.2:p.Asp1171Glu |
| NM_006939.3:c.3513T>G | NP_008870.2:p.Asp1171Glu |
| ENST00000216373.9:c.3513T>G | ENSP00000216373.5:p.Asp1171Glu |
| ENST00000543680.5:c.3414T>G | ENSP00000445328.1:p.Asp1138Glu |
| XM_005268021.1:c.3333T>G | XP_005268078.1:p.Asp1111Glu |
| XM_011537103.1:c.3474T>G | XP_011535405.1:p.Asp1158Glu |