HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35438200G>C , CM000682.2:g.35438200G>C | GRCh38 |
NC_000020.10:g.34025980G>C , CM000682.1:g.34025980G>C | GRCh37 |
NC_000020.9:g.33489394G>C | NCBI36 |
NG_008076.2:g.5020C>G | |
NG_008076.3:g.21547C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374369.8:c.-272C>G MANE Select | ENSP00000363489.3:n.-272C>G | |
ENST00000374369.7:c.-272C>G | ENSP00000363489.3:n.-272C>G | |
ENST00000374372.1:c.-241-31C>G | ENSP00000363492.1:n.-241-31C>G | |
XM_011529075.1:c.-241-31C>G | XP_011527377.1:n.-241-31C>G | |
XM_011529076.1:c.-241-31C>G | XP_011527378.1:n.-241-31C>G | |
NM_001319138.1:c.-241-31C>G | NP_001306067.1:n.-241-31C>G | |
NM_000557.5:c.-272C>G MANE Select | NP_000548.2:n.-272C>G | |
NM_001319138.2:c.-241-31C>G | NP_001306067.1:n.-241-31C>G |