HGVS | Genome Assembly |
---|---|
NC_000023.11:g.10714254T>G , CM000685.2:g.10714254T>G | GRCh38 |
NC_000023.10:g.10682294T>G , CM000685.1:g.10682294T>G | GRCh37 |
NC_000023.9:g.10642294T>G | NCBI36 |
NG_008197.1:g.124437A>C | |
NG_008197.2:g.124437A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380785.5:c.-186-93835A>C | ENSP00000370162.1:n.-186-93835A>C | |
ENST00000380787.5:c.-57+119300A>C | ENSP00000370164.1:n.-57+119300A>C | |
NM_033290.3:c.-57+119300A>C | NP_150632.1:n.-57+119300A>C | |
XM_005274536.1:c.-57+119300A>C | XP_005274593.1:n.-57+119300A>C | |
XM_011545525.1:c.-56-146651A>C | XP_011543827.1:n.-56-146651A>C | |
XM_011545526.1:c.-56-146651A>C | XP_011543828.1:n.-56-146651A>C | |
NM_033290.4:c.-57+119300A>C | NP_150632.1:n.-57+119300A>C |