HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119050505T>G , CM000672.2:g.119050505T>G | GRCh38 |
NC_000010.10:g.120810017T>G , CM000672.1:g.120810017T>G | GRCh37 |
NC_000010.9:g.120800007T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369144.8:c.2473+16A>C MANE Select | ENSP00000358140.3:n.2473+16A>C | |
ENST00000369144.7:c.2473+16A>C | ENSP00000358140.3:n.2473+16A>C | |
ENST00000541549.2:c.2473+16A>C | ENSP00000438178.2:n.2473+16A>C | |
NM_003750.2:c.2473+16A>C | NP_003741.1:n.2473+16A>C | |
NM_003750.3:c.2473+16A>C | NP_003741.1:n.2473+16A>C | |
NM_003750.4:c.2473+16A>C MANE Select | NP_003741.1:n.2473+16A>C |