Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29530504C= , CM000679.2:g.29530504C= | GRCh38 |
| NC_000017.10:g.27857522C= , CM000679.1:g.27857522C= | GRCh37 |
| NC_000017.9:g.24881648C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.2246C= MANE Select | ENSP00000261716.3:p.Pro749= | |
| ENST00000261716.7:c.2246C= | ENSP00000261716.3:p.Pro749= | |
| ENST00000536202.1:c.1802C= | ENSP00000438819.1:p.Pro601= | |
| ENST00000578653.1:n.330C= | ||
| NM_020791.2:c.2246C= | NP_065842.1:p.Pro749= | |
| NM_025142.1:c.1802C= | NP_079418.1:p.Pro601= | |
| XM_011525060.1:c.2246C= | XP_011523362.1:p.Pro749= | |
| XM_011525060.2:c.2246C= | XP_011523362.1:p.Pro749= | |
| NM_020791.4:c.2246C= MANE Select | NP_065842.1:p.Pro749= |