HGVS | Genome Assembly |
---|---|
NC_000007.14:g.155461340T>C , CM000669.2:g.155461340T>C | GRCh38 |
NC_000007.13:g.155254035T>C , CM000669.1:g.155254035T>C | GRCh37 |
NC_000007.12:g.154946796T>C | NCBI36 |
NG_007124.1:g.9621T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297375.4:c.686-1031T>C MANE Select | ENSP00000297375.4:n.686-1031T>C | |
NM_001427.3:c.686-1031T>C | NP_001418.2:n.686-1031T>C | |
NM_001427.4:c.686-1031T>C MANE Select | NP_001418.2:n.686-1031T>C |