Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941905A>G , CM000672.2:g.94941905A>G | GRCh38 |
| NC_000010.10:g.96701662A>G , CM000672.1:g.96701662A>G | GRCh37 |
| NC_000010.9:g.96691652A>G | NCBI36 |
| NG_008385.1:g.8248A>G | |
| NG_008385.2:g.8748A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.216A>G MANE Select | ENSP00000260682.6:p.Lys72= | |
| ENST00000643112.1:c.216A>G | ENSP00000496202.1:p.Lys72= | |
| ENST00000645207.1:n.369A>G | ||
| ENST00000260682.6:c.216A>G | ENSP00000260682.6:p.Lys72= | |
| ENST00000461906.1:n.241A>G | ||
| NM_000771.3:c.216A>G | NP_000762.2:p.Lys72= | |
| NM_000771.4:c.216A>G MANE Select | NP_000762.2:p.Lys72= |