HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38403839C>A , CM000685.2:g.38403839C>A | GRCh38 |
NC_000023.10:g.38263092C>A , CM000685.1:g.38263092C>A | GRCh37 |
NC_000023.9:g.38148036C>A | NCBI36 |
NG_008471.1:g.56357C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.663+99C>A MANE Select | ENSP00000039007.4:n.663+99C>A | |
ENST00000643344.1:c.*413+99C>A | ENSP00000496606.1:n.*413+99C>A | |
ENST00000039007.4:c.663+99C>A | ENSP00000039007.4:n.663+99C>A | |
ENST00000465127.1:c.172-262282C>A | ENSP00000417050.1:n.172-262282C>A | |
NM_000531.5:c.663+99C>A | NP_000522.3:n.663+99C>A | |
XM_017029556.1:c.663+99C>A | XP_016885045.1:n.663+99C>A | |
NM_000531.6:c.663+99C>A MANE Select | NP_000522.3:n.663+99C>A |