HGVS | Genome Assembly |
---|---|
NC_000014.9:g.74493402C>T , CM000676.2:g.74493402C>T | GRCh38 |
NC_000014.8:g.74960105C>T , CM000676.1:g.74960105C>T | GRCh37 |
NC_000014.7:g.74029858C>T | NCBI36 |
NG_007117.1:g.4980G>A | |
NG_033074.1:g.4683C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555592.1:c.-63-65G>A | ENSP00000450887.1:n.-63-65G>A | |
ENST00000555619.5:c.-128G>A | ENSP00000451112.1:n.-128G>A | |
ENST00000556009.5:c.147+629G>A | ||
NM_001363688.1:c.-128G>A | NP_001350617.1:n.-128G>A | |
NM_006432.4:c.-128G>A | NP_006423.1:n.-128G>A |