HGVS | Genome Assembly |
---|---|
NC_000007.14:g.138706601C>T , CM000669.2:g.138706601C>T | GRCh38 |
NC_000007.13:g.138391346C>T , CM000669.1:g.138391346C>T | GRCh37 |
NC_000007.12:g.138041886C>T | NCBI36 |
NG_008145.1:g.96596G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310018.7:c.*23G>A MANE Select | ENSP00000308122.2:n.*23G>A | |
ENST00000478480.2:c.*111G>A | ENSP00000495261.1:n.*111G>A | |
ENST00000644341.1:c.*23G>A | ENSP00000495642.1:n.*23G>A | |
ENST00000645515.1:c.*23G>A | ENSP00000496421.1:n.*23G>A | |
ENST00000647427.1:c.1321G>A | ENSP00000496259.1:n.1321G>A | |
ENST00000310018.6:c.*23G>A | ENSP00000308122.2:n.*23G>A | |
ENST00000353492.4:c.*23G>A | ENSP00000253856.6:n.*23G>A | |
ENST00000393054.5:c.*23G>A | ENSP00000376774.1:n.*23G>A | |
NM_020632.2:c.*23G>A | NP_065683.2:n.*23G>A | |
NM_130840.2:c.*23G>A | NP_570855.2:n.*23G>A | |
NM_130841.2:c.*23G>A | NP_570856.2:n.*23G>A | |
XM_005250393.1:c.*23G>A | XP_005250450.1:n.*23G>A | |
XM_005250394.2:c.*23G>A | XP_005250451.1:n.*23G>A | |
XM_005250394.3:c.*23G>A | XP_005250451.1:n.*23G>A | |
NM_020632.3:c.*23G>A MANE Select | NP_065683.2:n.*23G>A | |
NM_130840.3:c.*23G>A | NP_570855.2:n.*23G>A | |
NM_130841.3:c.*23G>A | NP_570856.2:n.*23G>A |