Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941882T= , CM000672.2:g.94941882T= | GRCh38 |
| NC_000010.10:g.96701639T= , CM000672.1:g.96701639T= | GRCh37 |
| NC_000010.9:g.96691629T= | NCBI36 |
| NG_008385.1:g.8225T= | |
| NG_008385.2:g.8725T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.193T= MANE Select | ENSP00000260682.6:p.Phe65= | |
| ENST00000643112.1:c.193T= | ENSP00000496202.1:p.Phe65= | |
| ENST00000645207.1:n.346T= | ||
| ENST00000260682.6:c.193T= | ENSP00000260682.6:p.Phe65= | |
| ENST00000461906.1:n.218T= | ||
| NM_000771.3:c.193T= | NP_000762.2:p.Phe65= | |
| NM_000771.4:c.193T= MANE Select | NP_000762.2:p.Phe65= |