Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116696C= , CM000663.2:g.206116696C= | GRCh38 |
| NC_000001.10:g.206224635G= , CM000663.1:g.206224635G= | GRCh37 |
| NC_000001.9:g.204391258G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367126.5:c.195G= MANE Select | ENSP00000356094.4:p.Lys65= | |
| ENST00000367126.4:c.195G= | ENSP00000356094.4:p.Lys65= | |
| ENST00000612906.1:n.36+968G= | ||
| NM_000707.3:c.195G= | NP_000698.1:p.Lys65= | |
| NM_000707.4:c.195G= | NP_000698.1:p.Lys65= | |
| NM_000707.5:c.195G= MANE Select | NP_000698.1:p.Lys65= |