HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8745876G>C , CM000665.2:g.8745876G>C | GRCh38 |
NC_000003.11:g.8787562G>C , CM000665.1:g.8787562G>C | GRCh37 |
NC_000003.10:g.8762562G>C | NCBI36 |
NG_008797.2:g.17067G>C , LRG_329:g.17067G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343849.3:c.*9G>C MANE Select | ENSP00000341940.2:n.*9G>C | |
ENST00000343849.2:c.*9G>C | ENSP00000341940.2:n.*9G>C | |
ENST00000397368.2:c.*6+3G>C | ENSP00000380525.2:n.*6+3G>C | |
ENST00000472766.1:n.155+11886G>C | ||
NM_001234.4:c.*6+3G>C | NP_001225.1:n.*6+3G>C | |
NM_033337.2:c.*9G>C , LRG_329t1:c.*9G>C | NP_203123.1:n.*9G>C | |
NM_001234.5:c.*6+3G>C | NP_001225.1:n.*6+3G>C | |
NM_033337.3:c.*9G>C MANE Select | NP_203123.1:n.*9G>C |