Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16939677G= , CM000679.2:g.16939677G= | GRCh38 |
| NC_000017.10:g.16842991G= , CM000679.1:g.16842991G= | GRCh37 |
| NC_000017.9:g.16783716G= | NCBI36 |
| NG_007281.1:g.37412C= , LRG_120:g.37412C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012452.3:c.752C= MANE Select | NP_036584.1:p.Pro251= |
| ENST00000261652.7:c.752C= MANE Select | ENSP00000261652.2:p.Pro251= |
| NM_012452.2:c.752C= , LRG_120t1:c.752C= | NP_036584.1:p.Pro251= |
| ENST00000261652.6:c.752C= | ENSP00000261652.2:p.Pro251= |
| ENST00000579009.1:n.1386C= | |
| ENST00000579315.5:c.446-6501C= | ENSP00000464069.1:n.446-6501C= |
| ENST00000582931.5:n.350-6740C= | |
| ENST00000583789.1:c.614C= | ENSP00000462952.1:p.Pro205= |
| ENST00000584950.5:c.614C= | ENSP00000463582.1:p.Pro205= |