HGVS | Genome Assembly |
---|---|
NC_000002.12:g.85540532G>A , CM000664.2:g.85540532G>A | GRCh38 |
NC_000002.11:g.85767655G>A , CM000664.1:g.85767655G>A | GRCh37 |
NC_000002.10:g.85621166G>A | NCBI36 |
NG_029183.1:g.6555G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306434.8:c.92-551G>A MANE Select | ENSP00000303147.3:n.92-551G>A | |
ENST00000306434.7:c.92-551G>A | ENSP00000303147.3:n.92-551G>A | |
ENST00000409017.1:c.-99+532G>A | ENSP00000386353.1:n.-99+532G>A | |
ENST00000465151.5:n.212-551G>A | ||
ENST00000469221.5:n.212-551G>A | ||
ENST00000481412.5:n.70-551G>A | ||
NM_005911.5:c.92-551G>A | NP_005902.1:n.92-551G>A | |
NM_005911.6:c.92-551G>A MANE Select | NP_005902.1:n.92-551G>A |