Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942216A= , CM000672.2:g.94942216A= | GRCh38 |
| NC_000010.10:g.96701973A= , CM000672.1:g.96701973A= | GRCh37 |
| NC_000010.9:g.96691963A= | NCBI36 |
| NG_008385.1:g.8559A= | |
| NG_008385.2:g.9059A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.356A= MANE Select | ENSP00000260682.6:p.Lys119= | |
| ENST00000643112.1:c.356A= | ENSP00000496202.1:p.Lys119= | |
| ENST00000645207.1:n.509A= | ||
| ENST00000260682.6:c.356A= | ENSP00000260682.6:p.Lys119= | |
| ENST00000461906.1:n.381A= | ||
| ENST00000473496.1:n.127A= | ||
| NM_000771.3:c.356A= | NP_000762.2:p.Lys119= | |
| NM_000771.4:c.356A= MANE Select | NP_000762.2:p.Lys119= |