HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157241333C>A , CM000667.2:g.157241333C>A | GRCh38 |
NC_000005.9:g.156668343C>A , CM000667.1:g.156668343C>A | GRCh37 |
NC_000005.8:g.156600921C>A | NCBI36 |
NG_016276.1:g.65437C>A , LRG_189:g.65437C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696962.1:c.852-313C>A | ENSP00000513001.1:n.852-313C>A | |
ENST00000422843.8:c.986-313C>A MANE Select | ENSP00000398655.4:n.986-313C>A | |
ENST00000422843.7:c.986-313C>A | ENSP00000398655.3:n.986-313C>A | |
ENST00000519402.5:n.2258C>A | ||
ENST00000520173.1:n.104-313C>A | ||
NM_005546.3:c.986-313C>A , LRG_189t1:c.986-313C>A | NP_005537.3:n.986-313C>A | |
XM_017009443.1:c.611-313C>A | XP_016864932.1:n.611-313C>A | |
NM_005546.4:c.986-313C>A MANE Select | NP_005537.3:n.986-313C>A |