HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216122034A>C , CM000664.2:g.216122034A>C | GRCh38 |
NC_000002.11:g.216986757A>C , CM000664.1:g.216986757A>C | GRCh37 |
NC_000002.10:g.216695002A>C | NCBI36 |
NG_029780.1:g.17738A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000392132.7:c.492-28A>C MANE Select | ENSP00000375977.2:n.492-28A>C | |
ENST00000392132.6:c.492-28A>C | ENSP00000375977.2:n.492-28A>C | |
ENST00000392133.7:c.492-28A>C | ENSP00000375978.3:n.492-28A>C | |
ENST00000460284.5:n.1034-28A>C | ||
NM_021141.3:c.492-28A>C | NP_066964.1:n.492-28A>C | |
NM_021141.4:c.492-28A>C MANE Select | NP_066964.1:n.492-28A>C |