HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10223949C>G , CM000681.2:g.10223949C>G | GRCh38 |
NC_000019.9:g.10334625C>G , CM000681.1:g.10334625C>G | GRCh37 |
NC_000019.8:g.10195625C>G | NCBI36 |
NG_028016.3:g.12338G>C , LRG_362:g.12338G>C | |
NG_046802.1:g.12859G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646641.1:c.957G>C (S1PR2) MANE Select | ENSP00000496438.1:p.Gly319= | |
ENST00000588952.5:c.-401-5080G>C (DNMT1) | ENSP00000467050.1:n.-401-5080G>C | |
ENST00000590320.2:c.957G>C (S1PR2) | ENSP00000466933.1:p.Gly319= | |
ENST00000592342.5:c.-284+7255G>C (DNMT1) | ENSP00000465993.1:n.-284+7255G>C | |
NM_004230.3:c.957G>C (S1PR2) | NP_004221.3:p.Gly319= | |
XM_011528425.1:c.894+63G>C (S1PR2) | XP_011526727.1:n.894+63G>C | |
NM_004230.4:c.957G>C (S1PR2) MANE Select | NP_004221.3:p.Gly319= |