HGVS | Genome Assembly |
---|---|
NC_000007.14:g.143352008G>C , CM000669.2:g.143352008G>C | GRCh38 |
NC_000007.13:g.143049101G>C , CM000669.1:g.143049101G>C | GRCh37 |
NC_000007.12:g.142759223G>C | NCBI36 |
NG_009815.1:g.40883G>C | |
NG_009815.2:g.40883G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650516.2:c.*43G>C | ENSP00000498052.2:n.*43G>C | |
ENST00000343257.7:c.*43G>C MANE Select | ENSP00000339867.2:n.*43G>C | |
ENST00000343257.6:c.*43G>C | ENSP00000339867.2:n.*43G>C | |
XM_011515781.1:c.*43G>C | XP_011514083.1:n.*43G>C | |
XM_011515782.1:c.*43G>C | XP_011514084.1:n.*43G>C | |
XM_011515782.2:c.*43G>C | XP_011514084.1:n.*43G>C | |
XM_017011739.1:c.*43G>C | XP_016867228.1:n.*43G>C | |
XM_017011740.1:c.*43G>C | XP_016867229.1:n.*43G>C | |
NM_000083.3:c.*43G>C MANE Select | NP_000074.3:n.*43G>C | |
NR_046453.2:n.2965G>C |