Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541519C= , CM000664.2:g.232541519C= | GRCh38 |
| NC_000002.11:g.233406229C= , CM000664.1:g.233406229C= | GRCh37 |
| NC_000002.10:g.233114473C= | NCBI36 |
| NG_012954.1:g.6793C= | |
| NG_012954.2:g.6828C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.496C= MANE Select | ENSP00000498757.1:p.Leu166= | |
| ENST00000389492.3:c.350+808C= | ENSP00000374143.3:n.350+808C= | |
| ENST00000389494.7:c.496C= | ENSP00000374145.3:p.Leu166= | |
| ENST00000485094.1:n.517C= | ||
| NM_005199.4:c.496C= | NP_005190.4:p.Leu166= | |
| NM_005199.5:c.496C= MANE Select | NP_005190.4:p.Leu166= |