HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709691T>C , CM000681.2:g.6709691T>C | GRCh38 |
NC_000019.9:g.6709702T>C , CM000681.1:g.6709702T>C | GRCh37 |
NC_000019.8:g.6660702T>C | NCBI36 |
NG_009557.1:g.15961A>G , LRG_27:g.15961A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695652.1:c.1715A>G | ENSP00000512083.1:p.Gln572Arg | |
ENST00000695654.1:c.962A>G | ENSP00000512085.1:p.Gln321Arg | |
ENST00000695655.1:c.779A>G | ENSP00000512086.1:n.779A>G | |
ENST00000695692.1:n.1202A>G | ||
ENST00000245907.11:c.1838A>G MANE Select | ENSP00000245907.4:p.Gln613Arg | |
ENST00000245907.10:c.1838A>G | ENSP00000245907.4:p.Gln613Arg | |
NM_000064.3:c.1838A>G | NP_000055.2:p.Gln613Arg | |
NM_000064.4:c.1838A>G MANE Select | NP_000055.2:p.Gln613Arg |