HGVS | Genome Assembly |
---|---|
NC_000007.14:g.73441834C>T , CM000669.2:g.73441834C>T | GRCh38 |
NC_000007.13:g.72856164C>T , CM000669.1:g.72856164C>T | GRCh37 |
NC_000007.12:g.72494100C>T | NCBI36 |
NG_027679.1:g.85452G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000339594.9:c.*16-141G>A MANE Select | ENSP00000342434.4:n.*16-141G>A | |
ENST00000339594.8:c.*16-141G>A | ENSP00000342434.4:n.*16-141G>A | |
ENST00000404251.1:c.*362G>A | ENSP00000385442.1:n.*362G>A | |
NM_032408.3:c.*16-141G>A | NP_115784.1:n.*16-141G>A | |
XM_017012773.2:c.*362G>A | XP_016868262.1:n.*362G>A | |
NM_032408.4:c.*16-141G>A MANE Select | NP_115784.1:n.*16-141G>A | |
NM_001370402.1:c.*362G>A | NP_001357331.1:n.*362G>A |