HGVS | Genome Assembly |
---|---|
NC_000020.11:g.56369735C>T , CM000682.2:g.56369735C>T | GRCh38 |
NC_000020.10:g.54944791C>T , CM000682.1:g.54944791C>T | GRCh37 |
NC_000020.9:g.54378198C>T | NCBI36 |
NG_012133.1:g.27561G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395915.8:c.*423G>A MANE Select | ENSP00000379251.3:n.*423G>A | |
ENST00000312783.10:c.*423G>A | ENSP00000321591.6:n.*423G>A | |
ENST00000347343.6:c.*423G>A | ENSP00000216911.2:n.*423G>A | |
ENST00000371356.6:c.*423G>A | ENSP00000360407.2:n.*423G>A | |
ENST00000395907.5:c.*735G>A | ENSP00000379243.1:n.*735G>A | |
ENST00000395911.5:c.*423G>A | ENSP00000379247.1:n.*423G>A | |
ENST00000395913.7:c.*423G>A | ENSP00000379249.3:n.*423G>A | |
ENST00000395914.5:c.*423G>A | ENSP00000379250.1:n.*423G>A | |
ENST00000395915.7:c.*423G>A | ENSP00000379251.3:n.*423G>A | |
NM_003600.2:c.*423G>A | NP_003591.2:n.*423G>A | |
NM_198433.1:c.*423G>A | NP_940835.1:n.*423G>A | |
NM_198434.1:c.*423G>A | NP_940836.1:n.*423G>A | |
NM_198435.1:c.*423G>A | NP_940837.1:n.*423G>A | |
NM_198436.1:c.*423G>A | NP_940838.1:n.*423G>A | |
NM_198437.1:c.*423G>A | NP_940839.1:n.*423G>A | |
XM_005260534.1:c.*423G>A | XP_005260591.1:n.*423G>A | |
XM_006723872.1:c.*423G>A | XP_006723935.1:n.*423G>A | |
NM_001323303.1:c.*423G>A | NP_001310232.1:n.*423G>A | |
NM_001323304.1:c.*423G>A | NP_001310233.1:n.*423G>A | |
NM_001323305.1:c.*423G>A | NP_001310234.1:n.*423G>A | |
NM_003600.3:c.*423G>A | NP_003591.2:n.*423G>A | |
NM_198433.2:c.*423G>A | NP_940835.1:n.*423G>A | |
NM_198434.2:c.*423G>A | NP_940836.1:n.*423G>A | |
NM_198435.2:c.*423G>A | NP_940837.1:n.*423G>A | |
NM_198436.2:c.*423G>A | NP_940838.1:n.*423G>A | |
NM_198437.2:c.*423G>A | NP_940839.1:n.*423G>A | |
XM_017028034.2:c.*423G>A | XP_016883523.1:n.*423G>A | |
XM_017028035.1:c.*423G>A | XP_016883524.1:n.*423G>A | |
XM_024451974.1:c.*423G>A | XP_024307742.1:n.*423G>A | |
NM_001323303.2:c.*423G>A | NP_001310232.1:n.*423G>A | |
NM_001323304.2:c.*423G>A | NP_001310233.1:n.*423G>A | |
NM_001323305.2:c.*423G>A | NP_001310234.1:n.*423G>A | |
NM_003600.4:c.*423G>A | NP_003591.2:n.*423G>A | |
NM_198433.3:c.*423G>A | NP_940835.1:n.*423G>A | |
NM_198435.3:c.*423G>A | NP_940837.1:n.*423G>A | |
NM_198436.3:c.*423G>A | NP_940838.1:n.*423G>A | |
NM_198437.3:c.*423G>A MANE Select | NP_940839.1:n.*423G>A | |
NM_198434.3:c.*423G>A | NP_940836.1:n.*423G>A |