HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104050567C>T , CM000672.2:g.104050567C>T | GRCh38 |
NC_000010.10:g.105810325C>T , CM000672.1:g.105810325C>T | GRCh37 |
NC_000010.9:g.105800315C>T | NCBI36 |
NG_007069.1:g.40314G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.2128+54G>A | ENSP00000358748.3:n.2128+54G>A | |
ENST00000648076.2:c.2128+54G>A MANE Select | ENSP00000497653.1:n.2128+54G>A | |
ENST00000353479.9:c.2128+54G>A | ENSP00000340937.5:n.2128+54G>A | |
ENST00000369733.7:c.2128+54G>A | ENSP00000358748.3:n.2128+54G>A | |
NM_000494.3:c.2128+54G>A | NP_000485.3:n.2128+54G>A | |
NM_000494.4:c.2128+54G>A MANE Select | NP_000485.3:n.2128+54G>A |