Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177993012C= , CM000667.2:g.177993012C= | GRCh38 |
| NC_000005.9:g.177420013C= , CM000667.1:g.177420013C= | GRCh37 |
| NC_000005.8:g.177352619C= | NCBI36 |
| NG_015889.1:g.8231G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.378G= MANE Select | ENSP00000311290.2:p.Lys126= | |
| NM_006261.4:c.378G= | NP_006252.3:p.Lys126= | |
| NM_006261.5:c.378G= MANE Select | NP_006252.4:p.Lys126= |