HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128946024G>C , CM000671.2:g.128946024G>C | GRCh38 |
NC_000009.11:g.131708303G>C , CM000671.1:g.131708303G>C | GRCh37 |
NC_000009.10:g.130748124G>C | NCBI36 |
NG_017009.1:g.6710C>G , LRG_744:g.6710C>G | |
NG_033111.1:g.3332G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372586.4:c.1280C>G MANE Select | ENSP00000361667.3:p.Thr427Arg | |
ENST00000372586.3:c.1280C>G | ENSP00000361667.3:p.Thr427Arg | |
ENST00000482796.1:c.39-3165G>C | ENSP00000417556.2:n.39-3165G>C | |
NM_014908.3:c.1280C>G , LRG_744t1:c.1280C>G | NP_055723.1:p.Thr427Arg | |
NM_014908.4:c.1280C>G MANE Select | NP_055723.1:p.Thr427Arg |