HGVS | Genome Assembly |
---|---|
NC_000022.11:g.48536386G>A , CM000684.2:g.48536386G>A | GRCh38 |
NC_000022.10:g.48932198G>A , CM000684.1:g.48932198G>A | GRCh37 |
NC_000022.9:g.47310862G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000402357.6:c.112+46682G>A MANE Select | ENSP00000383933.2:n.112+46682G>A | |
ENST00000336769.9:c.112+46682G>A | ENSP00000336812.5:n.112+46682G>A | |
ENST00000402357.5:c.112+46682G>A | ENSP00000383933.1:n.112+46682G>A | |
NM_001082967.2:c.112+46682G>A | NP_001076436.1:n.112+46682G>A | |
NM_001082967.3:c.112+46682G>A MANE Select | NP_001076436.1:n.112+46682G>A |