HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203959601A>C , CM000664.2:g.203959601A>C | GRCh38 |
NC_000002.11:g.204824324A>C , CM000664.1:g.204824324A>C | GRCh37 |
NC_000002.10:g.204532569A>C | NCBI36 |
NG_011586.1:g.27822A>C , LRG_65:g.27822A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000316386.11:c.*2A>C MANE Select | ENSP00000319476.6:n.*2A>C | |
ENST00000316386.10:c.*2A>C | ENSP00000319476.6:n.*2A>C | |
ENST00000435193.1:c.*10A>C | ENSP00000415951.1:n.*10A>C | |
NM_012092.3:c.*2A>C , LRG_65t1:c.*2A>C | NP_036224.1:n.*2A>C | |
XM_011511028.1:c.*103A>C | XP_011509330.1:n.*103A>C | |
XM_011511029.1:c.*2A>C | XP_011509331.1:n.*2A>C | |
XM_011511030.1:c.*103A>C | XP_011509332.1:n.*103A>C | |
XM_011511031.1:c.*103A>C | XP_011509333.1:n.*103A>C | |
NM_012092.4:c.*2A>C MANE Select | NP_036224.1:n.*2A>C |