HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38381473G>A , CM000685.2:g.38381473G>A | GRCh38 |
NC_000023.10:g.38240726G>A , CM000685.1:g.38240726G>A | GRCh37 |
NC_000023.9:g.38125670G>A | NCBI36 |
NG_008471.1:g.33991G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.386+44G>A MANE Select | ENSP00000039007.4:n.386+44G>A | |
ENST00000643344.1:c.*136+44G>A | ENSP00000496606.1:n.*136+44G>A | |
ENST00000039007.4:c.386+44G>A | ENSP00000039007.4:n.386+44G>A | |
ENST00000465127.1:c.172-284648G>A | ENSP00000417050.1:n.172-284648G>A | |
ENST00000488812.1:n.423+44G>A | ||
NM_000531.5:c.386+44G>A | NP_000522.3:n.386+44G>A | |
XM_017029556.1:c.386+44G>A | XP_016885045.1:n.386+44G>A | |
NM_000531.6:c.386+44G>A MANE Select | NP_000522.3:n.386+44G>A |