HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3518078T>G , CM000666.2:g.3518078T>G | GRCh38 |
NC_000004.11:g.3519805T>G , CM000666.1:g.3519805T>G | GRCh37 |
NC_000004.10:g.3489603T>G | NCBI36 |
NG_033873.1:g.19420A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648517.1:c.707A>C | ENSP00000496947.1:p.Asp236Ala | |
ENST00000650182.1:c.707A>C MANE Select | ENSP00000497444.1:p.Asp236Ala | |
ENST00000296325.9:n.670A>C | ||
ENST00000500728.2:c.707A>C | ENSP00000421922.1:p.Asp236Ala | |
ENST00000509198.1:n.753A>C | ||
ENST00000515119.5:c.*484A>C | ENSP00000421648.1:n.*484A>C | |
NM_002337.3:c.707A>C | NP_002328.1:p.Asp236Ala | |
NR_110005.1:n.670A>C | ||
NM_002337.4:c.707A>C MANE Select | NP_002328.1:p.Asp236Ala | |
XR_002959730.1:n.792A>C | ||
NR_110005.2:n.670A>C |