HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35438217T>G , CM000682.2:g.35438217T>G | GRCh38 |
NC_000020.10:g.34025997T>G , CM000682.1:g.34025997T>G | GRCh37 |
NC_000020.9:g.33489411T>G | NCBI36 |
NG_008076.2:g.5003A>C | |
NG_008076.3:g.21530A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374369.8:c.-289A>C MANE Select | ENSP00000363489.3:n.-289A>C | |
ENST00000374369.7:c.-289A>C | ENSP00000363489.3:n.-289A>C | |
ENST00000374372.1:c.-241-48A>C | ENSP00000363492.1:n.-241-48A>C | |
XM_011529075.1:c.-241-48A>C | XP_011527377.1:n.-241-48A>C | |
XM_011529076.1:c.-241-48A>C | XP_011527378.1:n.-241-48A>C | |
NM_001319138.1:c.-241-48A>C | NP_001306067.1:n.-241-48A>C | |
NM_000557.5:c.-289A>C MANE Select | NP_000548.2:n.-289A>C | |
NM_001319138.2:c.-241-48A>C | NP_001306067.1:n.-241-48A>C |