HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186069922T>G , CM000666.2:g.186069922T>G | GRCh38 |
NC_000004.11:g.186991076T>G , CM000666.1:g.186991076T>G | GRCh37 |
NC_000004.10:g.187228070T>G | NCBI36 |
NG_007278.1:g.5768T>G , LRG_117:g.5768T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698351.1:c.-8+674T>G | ENSP00000513674.1:n.-8+674T>G | |
ENST00000698352.1:c.-8+674T>G | ENSP00000513675.1:n.-8+674T>G | |
ENST00000296795.8:c.-8+674T>G MANE Select | ENSP00000296795.3:n.-8+674T>G | |
ENST00000296795.7:c.-8+674T>G | ENSP00000296795.2:n.-8+674T>G | |
ENST00000513189.1:c.-8+674T>G | ENSP00000423386.1:n.-8+674T>G | |
NM_003265.2:c.-8+674T>G , LRG_117t1:c.-8+674T>G | NP_003256.1:n.-8+674T>G | |
NM_003265.3:c.-8+674T>G MANE Select | NP_003256.1:n.-8+674T>G |