HGVS | Genome Assembly |
---|---|
NC_000003.12:g.133745840G>A , CM000665.2:g.133745840G>A | GRCh38 |
NC_000003.11:g.133464684G>A , CM000665.1:g.133464684G>A | GRCh37 |
NC_000003.10:g.134947374G>A | NCBI36 |
NG_013080.1:g.4708G>A | |
NG_013080.2:g.88843G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000460564.5:n.382-7755G>A (INHCAP) | ||
XM_011513100.1:c.-438-163G>A (TF) | XP_011511402.1:n.-438-163G>A | |
NM_001354703.1:c.-89-2572G>A (TF) | NP_001341632.1:n.-89-2572G>A | |
NM_001354703.2:c.-89-2572G>A (TF) | NP_001341632.2:n.-89-2572G>A |