HGVS | Genome Assembly |
---|---|
NC_000023.11:g.23680746T>C , CM000685.2:g.23680746T>C | GRCh38 |
NC_000023.10:g.23698863T>C , CM000685.1:g.23698863T>C | GRCh37 |
NC_000023.9:g.23608784T>C | NCBI36 |
NG_012563.1:g.18219T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379341.9:c.599+1459T>C MANE Select | ENSP00000368646.4:n.599+1459T>C | |
ENST00000379341.8:c.599+1459T>C | ENSP00000368646.4:n.599+1459T>C | |
ENST00000439422.1:c.231+1459T>C | ||
NM_006406.1:c.599+1459T>C | NP_006397.1:n.599+1459T>C | |
XM_005274438.1:c.557+1459T>C | XP_005274495.1:n.557+1459T>C | |
NM_006406.2:c.599+1459T>C MANE Select | NP_006397.1:n.599+1459T>C |