HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157241616C>T , CM000667.2:g.157241616C>T | GRCh38 |
NC_000005.9:g.156668626C>T , CM000667.1:g.156668626C>T | GRCh37 |
NC_000005.8:g.156601204C>T | NCBI36 |
NG_016276.1:g.65720C>T , LRG_189:g.65720C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696962.1:c.852-30C>T | ENSP00000513001.1:n.852-30C>T | |
ENST00000422843.8:c.986-30C>T MANE Select | ENSP00000398655.4:n.986-30C>T | |
ENST00000422843.7:c.986-30C>T | ENSP00000398655.3:n.986-30C>T | |
ENST00000519402.5:n.2541C>T | ||
ENST00000519749.1:n.26C>T | ||
ENST00000520173.1:n.104-30C>T | ||
NM_005546.3:c.986-30C>T , LRG_189t1:c.986-30C>T | NP_005537.3:n.986-30C>T | |
XM_017009443.1:c.611-30C>T | XP_016864932.1:n.611-30C>T | |
NM_005546.4:c.986-30C>T MANE Select | NP_005537.3:n.986-30C>T |