Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419733C= , CM000681.2:g.48419733C= | GRCh38 |
| NC_000019.9:g.48922990C= , CM000681.1:g.48922990C= | GRCh37 |
| NC_000019.8:g.53614802C= | NCBI36 |
| NG_052829.1:g.29859C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263269.4:c.2010C= MANE Select | ENSP00000263269.2:p.Leu670= | |
| ENST00000263269.3:c.2010C= | ENSP00000263269.2:p.Leu670= | |
| NM_000836.2:c.2010C= | NP_000827.2:p.Leu670= | |
| XM_011526872.1:c.2010C= | XP_011525174.1:p.Leu670= | |
| NM_000836.4:c.2010C= MANE Select | NP_000827.2:p.Leu670= |