Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26601947G>A , CM000684.2:g.26601947G>A | GRCh38 |
| NC_000022.10:g.26997911G>A , CM000684.1:g.26997911G>A | GRCh37 |
| NC_000022.9:g.25327911G>A | NCBI36 |
| NG_009826.1:g.21081C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001887.4:c.507C>T MANE Select | NP_001878.1:p.Asp169= |
| ENST00000647684.1:c.507C>T MANE Select | ENSP00000497249.1:p.Asp169= |
| NM_001887.3:c.507C>T | NP_001878.1:p.Asp169= |
| ENST00000215939.2:c.507C>T | ENSP00000215939.2:p.Asp169= |
| XM_011529899.1:c.507C>T | XP_011528201.1:p.Asp169= |
| XM_011529899.3:c.507C>T | XP_011528201.1:p.Asp169= |