HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063832T>G , CM000663.2:g.55063832T>G | GRCh38 |
NC_000001.10:g.55529505T>G , CM000663.1:g.55529505T>G | GRCh37 |
NC_000001.9:g.55302093T>G | NCBI36 |
NG_009061.1:g.29286T>G , LRG_275:g.29286T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*667T>G | ENSP00000501161.2:n.*667T>G | |
ENST00000710286.1:c.*248T>G | ENSP00000518176.1:n.*248T>G | |
ENST00000673903.1:c.*248T>G | ENSP00000501257.1:n.*248T>G | |
ENST00000302118.5:c.*248T>G MANE Select | ENSP00000303208.5:n.*248T>G | |
ENST00000490692.1:n.2873T>G | ||
NM_174936.3:c.*248T>G , LRG_275t1:c.*248T>G | NP_777596.2:n.*248T>G | |
NR_110451.1:n.1934T>G | ||
XM_011541193.1:c.*248T>G | XP_011539495.1:n.*248T>G | |
NM_174936.4:c.*248T>G MANE Select | NP_777596.2:n.*248T>G | |
NR_110451.2:n.1934T>G |