dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.18814070C>A , CM000682.2:g.18814070C>A | GRCh38 |
| NC_000020.10:g.18794714C>A , CM000682.1:g.18794714C>A | GRCh37 |
| NC_000020.9:g.18742714C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377428.4:c.255C>A (SCP2D1) MANE Select | ENSP00000366645.2:p.Thr85= | |
| ENST00000377428.3:c.255C>A (SCP2D1) | ENSP00000366645.2:p.Thr85= | |
| NM_001242671.2:c.117-3955G>T (SCP2D1-AS1) | NP_001229600.1:n.117-3955G>T | |
| NM_001302818.1:c.93-3955G>T (SCP2D1-AS1) | NP_001289747.1:n.93-3955G>T | |
| NM_178483.2:c.255C>A (SCP2D1) | NP_848578.1:p.Thr85= | |
| NM_178483.3:c.255C>A (SCP2D1) MANE Select | NP_848578.1:p.Thr85= | |
| NR_161342.1:n.269-3955G>T (SCP2D1-AS1) | ||
| NR_161343.1:n.245-3955G>T (SCP2D1-AS1) |