HGVS | Genome Assembly |
---|---|
NC_000007.14:g.138706623C>G , CM000669.2:g.138706623C>G | GRCh38 |
NC_000007.13:g.138391368C>G , CM000669.1:g.138391368C>G | GRCh37 |
NC_000007.12:g.138041908C>G | NCBI36 |
NG_008145.1:g.96574G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310018.7:c.*1G>C MANE Select | ENSP00000308122.2:n.*1G>C | |
ENST00000478480.2:c.*89G>C | ENSP00000495261.1:n.*89G>C | |
ENST00000644341.1:c.*1G>C | ENSP00000495642.1:n.*1G>C | |
ENST00000645515.1:c.*1G>C | ENSP00000496421.1:n.*1G>C | |
ENST00000647427.1:c.1299G>C | ENSP00000496259.1:n.1299G>C | |
ENST00000310018.6:c.*1G>C | ENSP00000308122.2:n.*1G>C | |
ENST00000353492.4:c.*1G>C | ENSP00000253856.6:n.*1G>C | |
ENST00000393054.5:c.*1G>C | ENSP00000376774.1:n.*1G>C | |
NM_020632.2:c.*1G>C | NP_065683.2:n.*1G>C | |
NM_130840.2:c.*1G>C | NP_570855.2:n.*1G>C | |
NM_130841.2:c.*1G>C | NP_570856.2:n.*1G>C | |
XM_005250393.1:c.*1G>C | XP_005250450.1:n.*1G>C | |
XM_005250394.2:c.*1G>C | XP_005250451.1:n.*1G>C | |
XM_005250394.3:c.*1G>C | XP_005250451.1:n.*1G>C | |
NM_020632.3:c.*1G>C MANE Select | NP_065683.2:n.*1G>C | |
NM_130840.3:c.*1G>C | NP_570855.2:n.*1G>C | |
NM_130841.3:c.*1G>C | NP_570856.2:n.*1G>C |