HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119050494C>T , CM000672.2:g.119050494C>T | GRCh38 |
NC_000010.10:g.120810006C>T , CM000672.1:g.120810006C>T | GRCh37 |
NC_000010.9:g.120799996C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369144.8:c.2473+27G>A MANE Select | ENSP00000358140.3:n.2473+27G>A | |
ENST00000369144.7:c.2473+27G>A | ENSP00000358140.3:n.2473+27G>A | |
ENST00000541549.2:c.2473+27G>A | ENSP00000438178.2:n.2473+27G>A | |
NM_003750.2:c.2473+27G>A | NP_003741.1:n.2473+27G>A | |
NM_003750.3:c.2473+27G>A | NP_003741.1:n.2473+27G>A | |
NM_003750.4:c.2473+27G>A MANE Select | NP_003741.1:n.2473+27G>A |