Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564915G= , CM000684.2:g.36564915G= | GRCh38 |
| NC_000022.10:g.36960962G= , CM000684.1:g.36960962G= | GRCh37 |
| NC_000022.9:g.35290908G= | NCBI36 |
| NG_031861.1:g.142729C= | |
| NG_031861.2:g.142944C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.437-29C= MANE Select | ENSP00000300105.6:n.437-29C= | |
| ENST00000300105.6:c.437-29C= | ENSP00000300105.6:n.437-29C= | |
| NM_006078.3:c.437-29C= | NP_006069.1:n.437-29C= | |
| NM_006078.4:c.437-29C= | NP_006069.1:n.437-29C= | |
| XM_017028531.2:c.179-29C= | XP_016884020.1:n.179-29C= | |
| NM_001379051.1:c.368-29C= | NP_001365980.1:n.368-29C= | |
| NM_006078.5:c.437-29C= MANE Select | NP_006069.1:n.437-29C= | |
| NR_166440.1:n.1803-29C= |