HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115396C>G , CM000681.2:g.10115396C>G | GRCh38 |
NC_000019.9:g.10226072C>G , CM000681.1:g.10226072C>G | GRCh37 |
NC_000019.8:g.10087072C>G | NCBI36 |
NG_047007.1:g.8876C>G | |
NG_051197.1:g.9529G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000253108.9:c.947+83G>C MANE Select | ENSP00000253108.3:n.947+83G>C | |
ENST00000253108.8:c.947+83G>C | ENSP00000253108.3:n.947+83G>C | |
ENST00000590158.1:n.966+83G>C | ||
ENST00000593054.5:c.341+83G>C | ENSP00000467187.1:n.341+83G>C | |
NM_003755.3:c.947+83G>C | NP_003746.2:n.947+83G>C | |
NM_003755.4:c.947+83G>C | NP_003746.2:n.947+83G>C | |
NM_003755.5:c.947+83G>C MANE Select | NP_003746.2:n.947+83G>C |