HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32177613C>A , CM000668.2:g.32177613C>A | GRCh38 |
NC_000006.11:g.32145390C>A , CM000668.1:g.32145390C>A | GRCh37 |
NC_000006.10:g.32253368C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000336984.6:c.-10+388G>T | ENSP00000337463.6:n.-10+388G>T | |
ENST00000395497.5:c.-79G>T | ENSP00000378875.1:n.-79G>T | |
NM_032741.4:c.-10+388G>T | NP_116130.2:n.-10+388G>T | |
XM_011514234.1:c.-79G>T | XP_011512536.1:n.-79G>T | |
XM_005248806.2:c.-389G>T | XP_005248863.1:n.-389G>T | |
NM_032741.5:c.-10+388G>T | NP_116130.2:n.-10+388G>T |