Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40688557C>G , CM000682.2:g.40688557C>G | GRCh38 |
| NC_000020.10:g.39317197C>G , CM000682.1:g.39317197C>G | GRCh37 |
| NC_000020.9:g.38750611C>G | NCBI36 |
| NG_023378.1:g.5680G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005461.5:c.294G>C MANE Select | NP_005452.2:p.Glu98Asp |
| ENST00000373313.3:c.294G>C MANE Select | ENSP00000362410.2:p.Glu98Asp |
| NM_005461.4:c.294G>C | NP_005452.2:p.Glu98Asp |
| ENST00000373313.2:c.294G>C | ENSP00000362410.2:p.Glu98Asp |