Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564585G= , CM000684.2:g.36564585G= | GRCh38 |
| NC_000022.10:g.36960632G= , CM000684.1:g.36960632G= | GRCh37 |
| NC_000022.9:g.35290578G= | NCBI36 |
| NG_031861.1:g.143059C= | |
| NG_031861.2:g.143274C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.738C= MANE Select | ENSP00000300105.6:p.Pro246= | |
| ENST00000300105.6:c.738C= | ENSP00000300105.6:p.Pro246= | |
| NM_006078.3:c.738C= | NP_006069.1:p.Pro246= | |
| NM_006078.4:c.738C= | NP_006069.1:p.Pro246= | |
| XM_017028531.2:c.480C= | XP_016884020.1:p.Pro160= | |
| NM_001379051.1:c.669C= | NP_001365980.1:p.Pro223= | |
| NM_006078.5:c.738C= MANE Select | NP_006069.1:p.Pro246= | |
| NR_166440.1:n.2104C= |