HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157241269G>A , CM000667.2:g.157241269G>A | GRCh38 |
NC_000005.9:g.156668279G>A , CM000667.1:g.156668279G>A | GRCh37 |
NC_000005.8:g.156600857G>A | NCBI36 |
NG_016276.1:g.65373G>A , LRG_189:g.65373G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696962.1:c.852-377G>A | ENSP00000513001.1:n.852-377G>A | |
ENST00000422843.8:c.986-377G>A MANE Select | ENSP00000398655.4:n.986-377G>A | |
ENST00000422843.7:c.986-377G>A | ENSP00000398655.3:n.986-377G>A | |
ENST00000519402.5:n.2194G>A | ||
ENST00000520173.1:n.104-377G>A | ||
NM_005546.3:c.986-377G>A , LRG_189t1:c.986-377G>A | NP_005537.3:n.986-377G>A | |
XM_017009443.1:c.611-377G>A | XP_016864932.1:n.611-377G>A | |
NM_005546.4:c.986-377G>A MANE Select | NP_005537.3:n.986-377G>A |