Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141955347C>T , CM000667.2:g.141955347C>T | GRCh38 |
| NC_000005.9:g.141334912C>T , CM000667.1:g.141334912C>T | GRCh37 |
| NC_000005.8:g.141315096C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016580.4:c.2505G>A MANE Select | NP_057664.1:p.Pro835= |
| ENST00000231484.4:c.2505G>A MANE Select | ENSP00000231484.3:p.Pro835= |
| NM_016580.3:c.2505G>A | NP_057664.1:p.Pro835= |
| ENST00000231484.3:c.2505G>A | ENSP00000231484.3:p.Pro835= |
| XM_024446106.1:c.2505G>A | XP_024301874.1:p.Pro835= |
| XR_944366.1:n.3118-289C>T |