HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99949535G>T , CM000666.2:g.99949535G>T | GRCh38 |
NC_000004.11:g.100870692G>T , CM000666.1:g.100870692G>T | GRCh37 |
NC_000004.10:g.101089715G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296417.6:c.81+128C>A MANE Select | ENSP00000296417.5:n.81+128C>A | |
ENST00000651623.1:c.81+128C>A | ENSP00000498935.1:n.81+128C>A | |
ENST00000296417.5:c.81+128C>A | ENSP00000296417.5:n.81+128C>A | |
ENST00000511203.1:n.765C>A | ||
ENST00000511319.5:n.606+128C>A | ||
ENST00000511348.1:n.394C>A | ||
ENST00000527366.1:n.165+128C>A | ||
ENST00000529158.5:n.130+128C>A | ||
NM_002106.3:c.81+128C>A | NP_002097.1:n.81+128C>A | |
NM_002106.4:c.81+128C>A MANE Select | NP_002097.1:n.81+128C>A |