Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868881C= , CM000664.2:g.240868881C= | GRCh38 |
| NC_000002.11:g.241808298C= , CM000664.1:g.241808298C= | GRCh37 |
| NC_000002.10:g.241456971C= | NCBI36 |
| NG_008005.1:g.5137C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.16C= MANE Select | ENSP00000302620.3:p.Leu6= | |
| ENST00000307503.3:c.16C= | ENSP00000302620.3:p.Leu6= | |
| ENST00000472436.1:n.36C= | ||
| NM_000030.2:c.16C= | NP_000021.1:p.Leu6= | |
| XR_924060.1:n.405+1352G= | ||
| NM_000030.3:c.16C= MANE Select | NP_000021.1:p.Leu6= |