HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17018781C>G , CM000663.2:g.17018781C>G | GRCh38 |
NC_000001.10:g.17345276C>G , CM000663.1:g.17345276C>G | GRCh37 |
NC_000001.9:g.17217863C>G | NCBI36 |
NG_012340.1:g.40390G>C , LRG_316:g.40390G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.*100G>C | ENSP00000481376.2:n.*100G>C | |
ENST00000491274.6:c.*100G>C | ENSP00000480482.2:n.*100G>C | |
ENST00000375499.8:c.*100G>C MANE Select | ENSP00000364649.3:n.*100G>C | |
ENST00000375499.7:c.*100G>C | ENSP00000364649.3:n.*100G>C | |
ENST00000475049.5:n.368G>C | ||
ENST00000485092.5:n.607G>C | ||
NM_003000.2:c.*100G>C , LRG_316t1:c.*100G>C | NP_002991.2:n.*100G>C | |
NM_003000.3:c.*100G>C MANE Select | NP_002991.2:n.*100G>C |