HGVS | Genome Assembly |
---|---|
NC_000020.11:g.18814110C>T , CM000682.2:g.18814110C>T | GRCh38 |
NC_000020.10:g.18794754C>T , CM000682.1:g.18794754C>T | GRCh37 |
NC_000020.9:g.18742754C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000377428.4:c.295C>T (SCP2D1) MANE Select | ENSP00000366645.2:p.Pro99Ser | |
ENST00000377428.3:c.295C>T (SCP2D1) | ENSP00000366645.2:p.Pro99Ser | |
NM_001242671.2:c.117-3995G>A (SCP2D1-AS1) | NP_001229600.1:n.117-3995G>A | |
NM_001302818.1:c.93-3995G>A (SCP2D1-AS1) | NP_001289747.1:n.93-3995G>A | |
NM_178483.2:c.295C>T (SCP2D1) | NP_848578.1:p.Pro99Ser | |
NM_178483.3:c.295C>T (SCP2D1) MANE Select | NP_848578.1:p.Pro99Ser | |
NR_161342.1:n.269-3995G>A (SCP2D1-AS1) | ||
NR_161343.1:n.245-3995G>A (SCP2D1-AS1) |