HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7654532G>A , CM000679.2:g.7654532G>A | GRCh38 |
NC_000017.10:g.7557850G>A , CM000679.1:g.7557850G>A | GRCh37 |
NC_000017.9:g.7498575G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000250111.9:c.553-96G>A MANE Select | ENSP00000250111.4:n.553-96G>A | |
ENST00000250111.8:c.553-96G>A | ENSP00000250111.4:n.553-96G>A | |
ENST00000577026.5:c.307-96G>A | ENSP00000459145.1:n.307-96G>A | |
ENST00000577113.1:c.150-96G>A | ||
NM_001303263.1:c.307-96G>A | NP_001290192.1:n.307-96G>A | |
NM_001678.4:c.553-96G>A | NP_001669.3:n.553-96G>A | |
NM_001678.5:c.553-96G>A MANE Select | NP_001669.3:n.553-96G>A | |
NM_001303263.2:c.307-96G>A | NP_001290192.1:n.307-96G>A |