HGVS | Genome Assembly |
---|---|
NC_000001.11:g.240542650A>C , CM000663.2:g.240542650A>C | GRCh38 |
NC_000001.10:g.240705950A>C , CM000663.1:g.240705950A>C | GRCh37 |
NC_000001.9:g.238772573A>C | NCBI36 |
NG_053136.1:g.74723T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318160.5:c.-1-49174T>G MANE Select | ENSP00000318650.4:n.-1-49174T>G | |
ENST00000318160.4:c.-1-49174T>G | ENSP00000318650.4:n.-1-49174T>G | |
NM_022469.3:c.-1-49174T>G | NP_071914.3:n.-1-49174T>G | |
XM_011544249.1:c.-121-45053T>G | XP_011542551.1:n.-121-45053T>G | |
XM_011544249.2:c.-121-45053T>G | XP_011542551.1:n.-121-45053T>G | |
NM_022469.4:c.-1-49174T>G MANE Select | NP_071914.3:n.-1-49174T>G |