HGVS | Genome Assembly |
---|---|
NC_000007.14:g.120665039A>C , CM000669.2:g.120665039A>C | GRCh38 |
NC_000007.13:g.120305093A>C , CM000669.1:g.120305093A>C | GRCh37 |
NC_000007.12:g.120092329A>C | NCBI36 |
NG_034230.1:g.396372A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331113.9:c.1116-67864A>C MANE Select | ENSP00000333496.4:n.1116-67864A>C | |
ENST00000331113.8:c.1116-67864A>C | ENSP00000333496.4:n.1116-67864A>C | |
NM_012281.2:c.1116-67864A>C | NP_036413.1:n.1116-67864A>C | |
NM_012281.3:c.1116-67864A>C MANE Select | NP_036413.1:n.1116-67864A>C |