HGVS | Genome Assembly |
---|---|
NC_000008.11:g.64727611G>T , CM000670.2:g.64727611G>T | GRCh38 |
NC_000008.10:g.65640168G>T , CM000670.1:g.65640168G>T | GRCh37 |
NC_000008.9:g.65802722G>T | NCBI36 |
NG_008338.1:g.76181C>A | |
NG_008338.2:g.76181C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000310193.4:c.122+70855C>A MANE Select | ENSP00000310721.3:n.122+70855C>A | |
ENST00000310193.3:c.122+70855C>A | ENSP00000310721.3:n.122+70855C>A | |
NM_004820.3:c.122+70855C>A | NP_004811.1:n.122+70855C>A | |
NM_001324112.1:c.122+70855C>A | NP_001311041.1:n.122+70855C>A | |
NM_004820.4:c.122+70855C>A | NP_004811.1:n.122+70855C>A | |
NM_004820.5:c.122+70855C>A MANE Select | NP_004811.1:n.122+70855C>A | |
NM_001324112.2:c.122+70855C>A | NP_001311041.1:n.122+70855C>A |