HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10223868A>C , CM000681.2:g.10223868A>C | GRCh38 |
NC_000019.9:g.10334544A>C , CM000681.1:g.10334544A>C | GRCh37 |
NC_000019.8:g.10195544A>C | NCBI36 |
NG_028016.3:g.12419T>G , LRG_362:g.12419T>G | |
NG_046802.1:g.12940T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646641.1:c.1038T>G (S1PR2) MANE Select | ENSP00000496438.1:p.Phe346Leu | |
ENST00000588952.5:c.-401-4999T>G (DNMT1) | ENSP00000467050.1:n.-401-4999T>G | |
ENST00000590320.2:c.1038T>G (S1PR2) | ENSP00000466933.1:p.Phe346Leu | |
ENST00000592342.5:c.-284+7336T>G (DNMT1) | ENSP00000465993.1:n.-284+7336T>G | |
NM_004230.3:c.1038T>G (S1PR2) | NP_004221.3:p.Phe346Leu | |
XM_011528425.1:c.894+144T>G (S1PR2) | XP_011526727.1:n.894+144T>G | |
NM_004230.4:c.1038T>G (S1PR2) MANE Select | NP_004221.3:p.Phe346Leu |