HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42911443G>C , CM000679.2:g.42911443G>C | GRCh38 |
NC_000017.10:g.41063460G>C , CM000679.1:g.41063460G>C | GRCh37 |
NC_000017.9:g.38316986G>C | NCBI36 |
NG_011808.1:g.15646G>C , LRG_147:g.15646G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.*17G>C MANE Select | ENSP00000253801.1:n.*17G>C | |
ENST00000253801.6:c.*17G>C | ENSP00000253801.1:n.*17G>C | |
ENST00000585489.1:c.*483G>C | ENSP00000466202.1:n.*483G>C | |
NM_000151.3:c.*17G>C | NP_000142.2:n.*17G>C | |
NM_001270397.1:c.*483G>C | NP_001257326.1:n.*483G>C | |
NM_000151.4:c.*17G>C MANE Select | NP_000142.2:n.*17G>C | |
NM_001270397.2:c.*483G>C | NP_001257326.1:n.*483G>C |