Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169477212C= , CM000663.2:g.169477212C= | GRCh38 |
| NC_000001.10:g.169446450C= , CM000663.1:g.169446450C= | GRCh37 |
| NC_000001.9:g.167713074C= | NCBI36 |
| NG_008255.1:g.13759G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006996.3:c.750G= MANE Select | NP_008927.1:p.Trp250= |
| ENST00000236137.10:c.750G= MANE Select | ENSP00000236137.5:p.Trp250= |
| NM_001319667.1:c.205-7026G= | NP_001306596.1:n.205-7026G= |
| NM_006996.2:c.750G= | NP_008927.1:p.Trp250= |
| ENST00000236137.9:c.750G= | ENSP00000236137.5:p.Trp250= |
| ENST00000367804.4:c.205-7026G= | ENSP00000356778.3:n.205-7026G= |
| ENST00000646596.1:c.750G= | ENSP00000494404.1:p.Trp250= |
| XM_011509076.1:c.558G= | XP_011507378.1:p.Trp186= |
| XM_011509077.1:c.205-7026G= | XP_011507379.1:n.205-7026G= |