HGVS | Genome Assembly |
---|---|
NC_000001.11:g.23802441G= , CM000663.2:g.23802441G= | GRCh38 |
NC_000001.10:g.24128931G= , CM000663.1:g.24128931G= | GRCh37 |
NC_000001.9:g.24001518G= | NCBI36 |
NG_007068.1:g.3364C= | |
NG_013061.1:g.28019C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374490.8:c.*22C= MANE Select | ENSP00000363614.3:n.*22C= | |
ENST00000235958.4:c.570C= | ||
ENST00000374487.6:c.*1041C= | ENSP00000363611.2:n.*1041C= | |
ENST00000374490.7:c.*22C= | ENSP00000363614.3:n.*22C= | |
ENST00000436439.6:c.*22C= | ENSP00000389281.2:n.*22C= | |
NM_000191.2:c.*22C= | NP_000182.2:n.*22C= | |
NM_001166059.1:c.*22C= | NP_001159531.1:n.*22C= | |
NM_000191.3:c.*22C= MANE Select | NP_000182.2:n.*22C= | |
NM_001166059.2:c.*22C= | NP_001159531.1:n.*22C= |