HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3518087T>C , CM000666.2:g.3518087T>C | GRCh38 |
NC_000004.11:g.3519814T>C , CM000666.1:g.3519814T>C | GRCh37 |
NC_000004.10:g.3489612T>C | NCBI36 |
NG_033873.1:g.19411A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648517.1:c.698A>G | ENSP00000496947.1:p.Gln233Arg | |
ENST00000650182.1:c.698A>G MANE Select | ENSP00000497444.1:p.Gln233Arg | |
ENST00000296325.9:n.661A>G | ||
ENST00000500728.2:c.698A>G | ENSP00000421922.1:p.Gln233Arg | |
ENST00000509198.1:n.744A>G | ||
ENST00000515119.5:c.*475A>G | ENSP00000421648.1:n.*475A>G | |
NM_002337.3:c.698A>G | NP_002328.1:p.Gln233Arg | |
NR_110005.1:n.661A>G | ||
NM_002337.4:c.698A>G MANE Select | NP_002328.1:p.Gln233Arg | |
XR_002959730.1:n.783A>G | ||
NR_110005.2:n.661A>G |