HGVS | Genome Assembly |
---|---|
NC_000004.12:g.26490086C>T , CM000666.2:g.26490086C>T | GRCh38 |
NC_000004.11:g.26491708C>T , CM000666.1:g.26491708C>T | GRCh37 |
NC_000004.10:g.26100806C>T | NCBI36 |
NG_012053.1:g.5335G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295589.4:c.112+70G>A MANE Select | ENSP00000295589.3:n.112+70G>A | |
ENST00000295589.3:c.112+70G>A | ENSP00000295589.3:n.112+70G>A | |
NM_000730.2:c.112+70G>A | NP_000721.1:n.112+70G>A | |
NM_000730.3:c.112+70G>A MANE Select | NP_000721.1:n.112+70G>A |