HGVS | Genome Assembly |
---|---|
NC_000023.11:g.12871850A>C , CM000685.2:g.12871850A>C | GRCh38 |
NC_000023.10:g.12889969A>C , CM000685.1:g.12889969A>C | GRCh37 |
NC_000023.9:g.12799890A>C | NCBI36 |
NG_012569.1:g.9768A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380659.4:c.3+4269A>C MANE Select | ENSP00000370034.3:n.3+4269A>C | |
ENST00000380659.3:c.3+4269A>C | ENSP00000370034.3:n.3+4269A>C | |
ENST00000484204.1:n.103+4269A>C | ||
NM_016562.3:c.3+4269A>C | NP_057646.1:n.3+4269A>C | |
NM_016562.4:c.3+4269A>C MANE Select | NP_057646.1:n.3+4269A>C |