HGVS | Genome Assembly |
---|---|
NC_000001.11:g.240542718A>C , CM000663.2:g.240542718A>C | GRCh38 |
NC_000001.10:g.240706018A>C , CM000663.1:g.240706018A>C | GRCh37 |
NC_000001.9:g.238772641A>C | NCBI36 |
NG_053136.1:g.74655T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000318160.5:c.-1-49242T>G MANE Select | ENSP00000318650.4:n.-1-49242T>G | |
ENST00000318160.4:c.-1-49242T>G | ENSP00000318650.4:n.-1-49242T>G | |
NM_022469.3:c.-1-49242T>G | NP_071914.3:n.-1-49242T>G | |
XM_011544249.1:c.-121-45121T>G | XP_011542551.1:n.-121-45121T>G | |
XM_011544249.2:c.-121-45121T>G | XP_011542551.1:n.-121-45121T>G | |
NM_022469.4:c.-1-49242T>G MANE Select | NP_071914.3:n.-1-49242T>G |