Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29451602C= , CM000679.2:g.29451602C= | GRCh38 |
| NC_000017.10:g.27778620C= , CM000679.1:g.27778620C= | GRCh37 |
| NC_000017.9:g.24802746C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261716.8:c.54C= MANE Select | ENSP00000261716.3:p.Leu18= | |
| ENST00000261716.7:c.54C= | ENSP00000261716.3:p.Leu18= | |
| ENST00000536202.1:c.54C= | ENSP00000438819.1:p.Leu18= | |
| ENST00000583121.5:c.54C= | ENSP00000464562.1:p.Leu18= | |
| ENST00000587277.1:n.248C= | ||
| NM_020791.2:c.54C= | NP_065842.1:p.Leu18= | |
| NM_025142.1:c.54C= | NP_079418.1:p.Leu18= | |
| XM_011525060.1:c.54C= | XP_011523362.1:p.Leu18= | |
| XM_011525060.2:c.54C= | XP_011523362.1:p.Leu18= | |
| NM_020791.4:c.54C= MANE Select | NP_065842.1:p.Leu18= |