HGVS | Genome Assembly |
---|---|
NC_000007.14:g.131215327C>T , CM000669.2:g.131215327C>T | GRCh38 |
NC_000007.13:g.130900086C>T , CM000669.1:g.130900086C>T | GRCh37 |
NC_000007.12:g.130550626C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000416992.6:c.-179+12353C>T | ENSP00000387920.1:n.-179+12353C>T | |
ENST00000421797.6:c.-179+72386C>T | ENSP00000398094.2:n.-179+72386C>T | |
NM_001145354.1:c.29+72386C>T | NP_001138826.1:n.29+72386C>T | |
XM_024446767.1:c.-179+12353C>T | XP_024302535.1:n.-179+12353C>T | |
NM_001145354.2:c.29+72386C>T | NP_001138826.1:n.29+72386C>T |