HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128945773T>G , CM000671.2:g.128945773T>G | GRCh38 |
NC_000009.11:g.131708052T>G , CM000671.1:g.131708052T>G | GRCh37 |
NC_000009.10:g.130747873T>G | NCBI36 |
NG_017009.1:g.6961A>C , LRG_744:g.6961A>C | |
NG_033111.1:g.3081T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372586.4:c.1531A>C MANE Select | ENSP00000361667.3:p.Ser511Arg | |
ENST00000372586.3:c.1531A>C | ENSP00000361667.3:p.Ser511Arg | |
ENST00000482796.1:c.39-3416T>G | ENSP00000417556.2:n.39-3416T>G | |
NM_014908.3:c.1531A>C , LRG_744t1:c.1531A>C | NP_055723.1:p.Ser511Arg | |
NM_014908.4:c.1531A>C MANE Select | NP_055723.1:p.Ser511Arg |