HGVS | Genome Assembly |
---|---|
NC_000007.14:g.73441877C>A , CM000669.2:g.73441877C>A | GRCh38 |
NC_000007.13:g.72856207C>A , CM000669.1:g.72856207C>A | GRCh37 |
NC_000007.12:g.72494143C>A | NCBI36 |
NG_027679.1:g.85409G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000339594.9:c.*16-184G>T MANE Select | ENSP00000342434.4:n.*16-184G>T | |
ENST00000339594.8:c.*16-184G>T | ENSP00000342434.4:n.*16-184G>T | |
ENST00000404251.1:c.*319G>T | ENSP00000385442.1:n.*319G>T | |
NM_032408.3:c.*16-184G>T | NP_115784.1:n.*16-184G>T | |
XM_017012773.2:c.*319G>T | XP_016868262.1:n.*319G>T | |
NM_032408.4:c.*16-184G>T MANE Select | NP_115784.1:n.*16-184G>T | |
NM_001370402.1:c.*319G>T | NP_001357331.1:n.*319G>T |