HGVS | Genome Assembly |
---|---|
NC_000008.11:g.64624553A>T , CM000670.2:g.64624553A>T | GRCh38 |
NC_000008.10:g.65537110A>T , CM000670.1:g.65537110A>T | GRCh37 |
NC_000008.9:g.65699664A>T | NCBI36 |
NG_008338.1:g.179239T>A | |
NG_008338.2:g.179239T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310193.4:c.123-14T>A MANE Select | ENSP00000310721.3:n.123-14T>A | |
ENST00000310193.3:c.123-14T>A | ENSP00000310721.3:n.123-14T>A | |
NM_004820.3:c.123-14T>A | NP_004811.1:n.123-14T>A | |
NM_001324112.1:c.123-14T>A | NP_001311041.1:n.123-14T>A | |
NM_004820.4:c.123-14T>A | NP_004811.1:n.123-14T>A | |
XM_017014002.1:c.189-14T>A | XP_016869491.1:n.189-14T>A | |
NM_004820.5:c.123-14T>A MANE Select | NP_004811.1:n.123-14T>A | |
NM_001324112.2:c.123-14T>A | NP_001311041.1:n.123-14T>A |