HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10223945G>A , CM000681.2:g.10223945G>A | GRCh38 |
NC_000019.9:g.10334621G>A , CM000681.1:g.10334621G>A | GRCh37 |
NC_000019.8:g.10195621G>A | NCBI36 |
NG_028016.3:g.12342C>T , LRG_362:g.12342C>T | |
NG_046802.1:g.12863C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646641.1:c.961C>T (S1PR2) MANE Select | ENSP00000496438.1:p.Pro321Ser | |
ENST00000588952.5:c.-401-5076C>T (DNMT1) | ENSP00000467050.1:n.-401-5076C>T | |
ENST00000590320.2:c.961C>T (S1PR2) | ENSP00000466933.1:p.Pro321Ser | |
ENST00000592342.5:c.-284+7259C>T (DNMT1) | ENSP00000465993.1:n.-284+7259C>T | |
NM_004230.3:c.961C>T (S1PR2) | NP_004221.3:p.Pro321Ser | |
XM_011528425.1:c.894+67C>T (S1PR2) | XP_011526727.1:n.894+67C>T | |
NM_004230.4:c.961C>T (S1PR2) MANE Select | NP_004221.3:p.Pro321Ser |