Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38148684A= , CM000670.2:g.38148684A= | GRCh38 |
| NC_000008.10:g.38006202A= , CM000670.1:g.38006202A= | GRCh37 |
| NC_000008.9:g.38125359A= | NCBI36 |
| NG_011827.1:g.7399T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.135T= MANE Select | NP_000340.2:p.Pro45= |
| ENST00000276449.9:c.135T= MANE Select | ENSP00000276449.3:p.Pro45= |
| NM_000349.2:c.135T= | NP_000340.2:p.Pro45= |
| ENST00000276449.8:c.135T= | ENSP00000276449.3:p.Pro45= |
| ENST00000520114.1:n.309T= | |
| ENST00000521236.1:c.-144T= | ENSP00000430030.1:n.-144T= |
| ENST00000522050.1:c.71T= | |
| XM_006716392.1:c.135T= | XP_006716455.1:p.Pro45= |