Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.18814110C= , CM000682.2:g.18814110C= | GRCh38 |
| NC_000020.10:g.18794754C= , CM000682.1:g.18794754C= | GRCh37 |
| NC_000020.9:g.18742754C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178483.3:c.295C= (SCP2D1) MANE Select | NP_848578.1:p.Pro99= |
| ENST00000377428.4:c.295C= (SCP2D1) MANE Select | ENSP00000366645.2:p.Pro99= |
| NM_001242671.2:c.117-3995G= (SCP2D1-AS1) | NP_001229600.1:n.117-3995G= |
| NM_001302818.1:c.93-3995G= (SCP2D1-AS1) | NP_001289747.1:n.93-3995G= |
| NM_178483.2:c.295C= (SCP2D1) | NP_848578.1:p.Pro99= |
| NR_161342.1:n.269-3995G= (SCP2D1-AS1) | |
| NR_161343.1:n.245-3995G= (SCP2D1-AS1) | |
| ENST00000377428.3:c.295C= (SCP2D1) | ENSP00000366645.2:p.Pro99= |