Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41437504C>G , CM000679.2:g.41437504C>G | GRCh38 |
| NC_000017.10:g.39593756C>G , CM000679.1:g.39593756C>G | GRCh37 |
| NC_000017.9:g.36847282C>G | NCBI36 |
| NG_012295.1:g.8841G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006771.4:c.1279G>C MANE Select | NP_006762.3:p.Val427Leu |
| ENST00000246646.4:c.1279G>C MANE Select | ENSP00000246646.3:p.Val427Leu |
| NM_006771.3:c.1279G>C | NP_006762.3:p.Val427Leu |
| ENST00000246646.3:c.1279G>C | ENSP00000246646.2:p.Val427Leu |