HGVS | Genome Assembly |
---|---|
NC_000001.11:g.37493212C>G , CM000663.2:g.37493212C>G | GRCh38 |
NC_000001.10:g.37958813C>G , CM000663.1:g.37958813C>G | GRCh37 |
NC_000001.9:g.37731400C>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296214.10:c.*887G>C MANE Select | ENSP00000296214.5:n.*887G>C | |
ENST00000296214.9:c.*887G>C | ENSP00000296214.5:n.*887G>C | |
ENST00000373075.6:c.*887G>C | ENSP00000362166.2:n.*887G>C | |
NM_001270875.1:c.*887G>C | NP_001257804.1:n.*887G>C | |
NM_001270876.1:c.*557G>C | NP_001257805.1:n.*557G>C | |
NM_022756.5:c.*887G>C | NP_073593.2:n.*887G>C | |
NR_073090.1:n.1624G>C | ||
NR_073091.1:n.1594G>C | ||
NR_073092.1:n.1655G>C | ||
NM_001270875.2:c.*887G>C | NP_001257804.1:n.*887G>C | |
NM_001270876.2:c.*557G>C | NP_001257805.1:n.*557G>C | |
NM_022756.6:c.*887G>C | NP_073593.2:n.*887G>C | |
NR_073090.2:n.1571G>C | ||
NR_073091.2:n.1541G>C | ||
NR_073092.2:n.1602G>C | ||
NM_001270875.3:c.*887G>C MANE Select | NP_001257804.1:n.*887G>C | |
NM_001270876.3:c.*557G>C | NP_001257805.1:n.*557G>C | |
NM_022756.7:c.*887G>C | NP_073593.2:n.*887G>C | |
NR_073090.3:n.1571G>C | ||
NR_073091.3:n.1541G>C | ||
NR_073092.3:n.1602G>C |