HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100882982G>A , CM000676.2:g.100882982G>A | GRCh38 |
NC_000014.8:g.101349319G>A , CM000676.1:g.101349319G>A | GRCh37 |
NC_000014.7:g.100419072G>A | NCBI36 |
NG_045001.1:g.6866C>T | |
NG_045000.5:g.51714G>A | |
NG_045000.6:g.51714G>A | |
NG_045001.2:g.25741C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649591.1:c.1807C>T (RTL1) MANE Select | ENSP00000497482.1:p.His603Tyr | |
ENST00000534062.1:c.1807C>T (RTL1) | ENSP00000435342.1:p.His603Tyr | |
NM_001134888.2:c.1807C>T (RTL1) | NP_001128360.1:p.His603Tyr | |
NR_029696.1:n.4G>A (MIR127) | ||
NM_001134888.3:c.1807C>T (RTL1) MANE Select | NP_001128360.1:p.His603Tyr |