Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65636397C>G , CM000663.2:g.65636397C>G | GRCh38 |
| NC_000001.10:g.66102080C>G , CM000663.1:g.66102080C>G | GRCh37 |
| NC_000001.9:g.65874668C>G | NCBI36 |
| NG_015831.2:g.220833C>G , LRG_283:g.220833C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002303.6:c.2880C>G MANE Select | NP_002294.2:p.Asn960Lys |
| ENST00000349533.11:c.2880C>G MANE Select | ENSP00000330393.7:p.Asn960Lys |
| NM_002303.5:c.2880C>G , LRG_283t3:c.2880C>G | NP_002294.2:p.Asn960Lys |
| ENST00000349533.10:c.2880C>G | ENSP00000330393.6:p.Asn960Lys |
| ENST00000406510.7:c.81C>G | ENSP00000384025.3:p.Asn27Lys |