HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10223774A>G , CM000681.2:g.10223774A>G | GRCh38 |
NC_000019.9:g.10334450A>G , CM000681.1:g.10334450A>G | GRCh37 |
NC_000019.8:g.10195450A>G | NCBI36 |
NG_028016.3:g.12513T>C , LRG_362:g.12513T>C | |
NG_046802.1:g.13034T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000646641.1:c.*70T>C (S1PR2) MANE Select | ENSP00000496438.1:n.*70T>C | |
ENST00000588952.5:c.-401-4905T>C (DNMT1) | ENSP00000467050.1:n.-401-4905T>C | |
ENST00000590320.2:c.*70T>C (S1PR2) | ENSP00000466933.1:n.*70T>C | |
ENST00000592342.5:c.-284+7430T>C (DNMT1) | ENSP00000465993.1:n.-284+7430T>C | |
NM_004230.3:c.*70T>C (S1PR2) | NP_004221.3:n.*70T>C | |
XM_011528425.1:c.894+238T>C (S1PR2) | XP_011526727.1:n.894+238T>C | |
NM_004230.4:c.*70T>C (S1PR2) MANE Select | NP_004221.3:n.*70T>C |