Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.109087542C= , CM000670.2:g.109087542C= | GRCh38 |
| NC_000008.10:g.110099771C= , CM000670.1:g.110099771C= | GRCh37 |
| NC_000008.9:g.110168947C= | NCBI36 |
| NG_017161.1:g.5096C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518632.2:c.30C= MANE Select | ENSP00000430711.2:p.Asn10= | |
| ENST00000311762.2:c.30C= | ENSP00000309818.2:p.Asn10= | |
| ENST00000518632.1:c.30C= | ENSP00000430711.1:p.Asn10= | |
| NM_003301.5:c.30C= | NP_003292.1:p.Asn10= | |
| XM_011517263.1:c.30C= | XP_011515565.1:p.Asn10= | |
| XM_011517263.2:c.30C= | XP_011515565.1:p.Asn10= | |
| NM_003301.7:c.30C= MANE Select | NP_003292.1:p.Asn10= |