HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100883029A>G , CM000676.2:g.100883029A>G | GRCh38 |
NC_000014.8:g.101349366A>G , CM000676.1:g.101349366A>G | GRCh37 |
NC_000014.7:g.100419119A>G | NCBI36 |
NG_045001.1:g.6819T>C | |
NG_045000.5:g.51761A>G | |
NG_045000.6:g.51761A>G | |
NG_045001.2:g.25694T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000649591.1:c.1760T>C (RTL1) MANE Select | ENSP00000497482.1:p.Leu587Pro | |
ENST00000534062.1:c.1760T>C (RTL1) | ENSP00000435342.1:p.Leu587Pro | |
NM_001134888.2:c.1760T>C (RTL1) | NP_001128360.1:p.Leu587Pro | |
NR_029696.1:n.51A>G (MIR127) | ||
NM_001134888.3:c.1760T>C (RTL1) MANE Select | NP_001128360.1:p.Leu587Pro |