Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429924A>G , CM000663.2:g.68429924A>G | GRCh38 |
| NC_000001.10:g.68895607A>G , CM000663.1:g.68895607A>G | GRCh37 |
| NC_000001.9:g.68668195A>G | NCBI36 |
| NG_008472.1:g.25036T>C | |
| NG_008472.2:g.25036T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1454T>C MANE Select | ENSP00000262340.5:p.Val485Ala | |
| ENST00000262340.5:c.1454T>C | ENSP00000262340.5:p.Val485Ala | |
| NM_000329.2:c.1454T>C | NP_000320.1:p.Val485Ala | |
| XM_017002027.1:c.1178T>C | XP_016857516.1:p.Val393Ala | |
| NM_000329.3:c.1454T>C MANE Select | NP_000320.1:p.Val485Ala |