HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100882979T>A , CM000676.2:g.100882979T>A | GRCh38 |
NC_000014.8:g.101349316T>A , CM000676.1:g.101349316T>A | GRCh37 |
NC_000014.7:g.100419069T>A | NCBI36 |
NG_045001.1:g.6869A>T | |
NG_045000.5:g.51711T>A | |
NG_045000.6:g.51711T>A | |
NG_045001.2:g.25744A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649591.1:c.1810A>T (RTL1) MANE Select | ENSP00000497482.1:p.Ser604Cys | |
ENST00000534062.1:c.1810A>T (RTL1) | ENSP00000435342.1:p.Ser604Cys | |
NM_001134888.2:c.1810A>T (RTL1) | NP_001128360.1:p.Ser604Cys | |
NR_029696.1:n.1T>A (MIR127) | ||
NM_001134888.3:c.1810A>T (RTL1) MANE Select | NP_001128360.1:p.Ser604Cys |