Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302347G= , CM000681.2:g.33302347G= | GRCh38 |
| NC_000019.9:g.33793253G= , CM000681.1:g.33793253G= | GRCh37 |
| NC_000019.8:g.38485093G= | NCBI36 |
| NG_012022.1:g.5178C= , LRG_456:g.5178C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000498907.3:c.68C= MANE Select | ENSP00000427514.1:p.Pro23= | |
| ENST00000498907.2:c.68C= | ENSP00000427514.1:p.Pro23= | |
| NM_001285829.1:c.-290C= | NP_001272758.1:n.-290C= | |
| NM_001287424.1:c.173C= | NP_001274353.1:p.Pro58= | |
| NM_001287435.1:c.26C= | NP_001274364.1:p.Pro9= | |
| NM_004364.4:c.68C= | NP_004355.2:p.Pro23= | |
| NM_001287424.2:c.173C= | NP_001274353.1:p.Pro58= | |
| NM_004364.5:c.68C= MANE Select | NP_004355.2:p.Pro23= | |
| NM_001285829.2:c.-290C= | NP_001272758.1:n.-290C= | |
| NM_001287435.2:c.26C= | NP_001274364.1:p.Pro9= |