Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992808C= , CM000667.2:g.177992808C= | GRCh38 |
| NC_000005.9:g.177419809C= , CM000667.1:g.177419809C= | GRCh37 |
| NC_000005.8:g.177352415C= | NCBI36 |
| NG_015889.1:g.8435G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.582G= MANE Select | ENSP00000311290.2:p.Trp194= | |
| NM_006261.4:c.582G= | NP_006252.3:p.Trp194= | |
| NM_006261.5:c.582G= MANE Select | NP_006252.4:p.Trp194= |