Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89207006A>G , CM000672.2:g.89207006A>G | GRCh38 |
| NC_000010.10:g.90966763A>G , CM000672.1:g.90966763A>G | GRCh37 |
| NC_000010.9:g.90956743A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371852.4:c.287T>C MANE Select | ENSP00000360918.2:p.Val96Ala | |
| ENST00000371852.3:c.287T>C | ENSP00000360918.2:p.Val96Ala | |
| NM_003956.3:c.287T>C | NP_003947.1:p.Val96Ala | |
| NM_003956.4:c.287T>C MANE Select | NP_003947.1:p.Val96Ala |