HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35438337A>C , CM000682.2:g.35438337A>C | GRCh38 |
NC_000020.10:g.34026117A>C , CM000682.1:g.34026117A>C | GRCh37 |
NC_000020.9:g.33489531A>C | NCBI36 |
NG_008076.2:g.4883T>G | |
NG_008076.3:g.21410T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374372.1:c.-241-168T>G | ENSP00000363492.1:n.-241-168T>G | |
XM_011529075.1:c.-241-168T>G | XP_011527377.1:n.-241-168T>G | |
XM_011529076.1:c.-241-168T>G | XP_011527378.1:n.-241-168T>G | |
NM_001319138.1:c.-241-168T>G | NP_001306067.1:n.-241-168T>G | |
NM_001319138.2:c.-241-168T>G | NP_001306067.1:n.-241-168T>G |