HGVS | Genome Assembly |
---|---|
NC_000001.11:g.247457739T>C , CM000663.2:g.247457739T>C | GRCh38 |
NC_000001.10:g.247621041T>C , CM000663.1:g.247621041T>C | GRCh37 |
NC_000001.9:g.245687664T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000641149.2:c.-3183A>G MANE Select | ENSP00000492892.1:n.-3183A>G | |
ENST00000641149.1:c.-3183A>G | ENSP00000492892.1:n.-3183A>G | |
ENST00000641527.1:c.-1314A>G | ENSP00000493421.1:n.-1314A>G | |
ENST00000641613.1:n.270A>G | ||
NM_001004492.2:c.-3183A>G MANE Select | NP_001004492.1:n.-3183A>G | |
NR_169840.1:n.270A>G |