Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443884G= , CM000668.2:g.32443884G= | GRCh38 |
| NC_000006.11:g.32411661G= , CM000668.1:g.32411661G= | GRCh37 |
| NC_000006.10:g.32519639G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.739G= MANE Select | ENSP00000378786.2:p.Ala247= | |
| ENST00000374982.5:c.664G= | ENSP00000364121.5:p.Ala222= | |
| ENST00000395388.6:c.739G= | ENSP00000378786.2:p.Ala247= | |
| NM_019111.4:c.739G= | NP_061984.2:p.Ala247= | |
| NM_019111.5:c.739G= MANE Select | NP_061984.2:p.Ala247= |