HGVS | Genome Assembly |
---|---|
NC_000006.12:g.79921620C>T , CM000668.2:g.79921620C>T | GRCh38 |
NC_000006.11:g.80631337C>T , CM000668.1:g.80631337C>T | GRCh37 |
NC_000006.10:g.80688056C>T | NCBI36 |
NG_009108.1:g.30979G>A | |
NG_009108.2:g.30979G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369816.5:c.541+5G>A MANE Select | ENSP00000358831.4:n.541+5G>A | |
ENST00000369816.4:c.541+5G>A | ENSP00000358831.4:n.541+5G>A | |
NM_022726.3:c.541+5G>A | NP_073563.1:n.541+5G>A | |
NM_022726.4:c.541+5G>A MANE Select | NP_073563.1:n.541+5G>A |