HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10223921G>A , CM000681.2:g.10223921G>A | GRCh38 |
NC_000019.9:g.10334597G>A , CM000681.1:g.10334597G>A | GRCh37 |
NC_000019.8:g.10195597G>A | NCBI36 |
NG_028016.3:g.12366C>T , LRG_362:g.12366C>T | |
NG_046802.1:g.12887C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646641.1:c.985C>T (S1PR2) MANE Select | ENSP00000496438.1:p.Arg329Cys | |
ENST00000588952.5:c.-401-5052C>T (DNMT1) | ENSP00000467050.1:n.-401-5052C>T | |
ENST00000590320.2:c.985C>T (S1PR2) | ENSP00000466933.1:p.Arg329Cys | |
ENST00000592342.5:c.-284+7283C>T (DNMT1) | ENSP00000465993.1:n.-284+7283C>T | |
NM_004230.3:c.985C>T (S1PR2) | NP_004221.3:p.Arg329Cys | |
XM_011528425.1:c.894+91C>T (S1PR2) | XP_011526727.1:n.894+91C>T | |
NM_004230.4:c.985C>T (S1PR2) MANE Select | NP_004221.3:p.Arg329Cys |