Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29451500C= , CM000679.2:g.29451500C= | GRCh38 |
| NC_000017.10:g.27778518C= , CM000679.1:g.27778518C= | GRCh37 |
| NC_000017.9:g.24802644C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.-49C= MANE Select | ENSP00000261716.3:n.-49C= | |
| ENST00000261716.7:c.-49C= | ENSP00000261716.3:n.-49C= | |
| ENST00000536202.1:c.-49C= | ENSP00000438819.1:n.-49C= | |
| ENST00000583121.5:c.-49C= | ENSP00000464562.1:n.-49C= | |
| ENST00000587277.1:n.146C= | ||
| NM_020791.2:c.-49C= | NP_065842.1:n.-49C= | |
| NM_025142.1:c.-49C= | NP_079418.1:n.-49C= | |
| XM_011525060.1:c.-49C= | XP_011523362.1:n.-49C= | |
| XM_011525060.2:c.-49C= | XP_011523362.1:n.-49C= | |
| NM_020791.4:c.-49C= MANE Select | NP_065842.1:n.-49C= |