HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10223798C>T , CM000681.2:g.10223798C>T | GRCh38 |
NC_000019.9:g.10334474C>T , CM000681.1:g.10334474C>T | GRCh37 |
NC_000019.8:g.10195474C>T | NCBI36 |
NG_028016.3:g.12489G>A , LRG_362:g.12489G>A | |
NG_046802.1:g.13010G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646641.1:c.*46G>A (S1PR2) MANE Select | ENSP00000496438.1:n.*46G>A | |
ENST00000588952.5:c.-401-4929G>A (DNMT1) | ENSP00000467050.1:n.-401-4929G>A | |
ENST00000590320.2:c.*46G>A (S1PR2) | ENSP00000466933.1:n.*46G>A | |
ENST00000592342.5:c.-284+7406G>A (DNMT1) | ENSP00000465993.1:n.-284+7406G>A | |
NM_004230.3:c.*46G>A (S1PR2) | NP_004221.3:n.*46G>A | |
XM_011528425.1:c.894+214G>A (S1PR2) | XP_011526727.1:n.894+214G>A | |
NM_004230.4:c.*46G>A (S1PR2) MANE Select | NP_004221.3:n.*46G>A |