Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882192C= , CM000664.2:g.218882192C= | GRCh38 |
| NC_000002.11:g.219746914C= , CM000664.1:g.219746914C= | GRCh37 |
| NC_000002.10:g.219455158C= | NCBI36 |
| NG_012179.1:g.6660C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.145C= MANE Select | ENSP00000258411.3:p.Leu49= | |
| ENST00000258411.7:c.145C= | ENSP00000258411.3:p.Leu49= | |
| ENST00000458582.1:c.32C= | ||
| NM_025216.2:c.145C= | NP_079492.2:p.Leu49= | |
| XM_011511928.1:c.94C= | XP_011510230.1:p.Leu32= | |
| XM_011511929.1:c.49C= | XP_011510231.1:p.Leu17= | |
| XM_011511930.1:c.145C= | XP_011510232.1:p.Leu49= | |
| XM_011511929.2:c.49C= | XP_011510231.1:p.Leu17= | |
| NM_025216.3:c.145C= MANE Select | NP_079492.2:p.Leu49= |