HGVS | Genome Assembly |
---|---|
NC_000001.11:g.240542714T>G , CM000663.2:g.240542714T>G | GRCh38 |
NC_000001.10:g.240706014T>G , CM000663.1:g.240706014T>G | GRCh37 |
NC_000001.9:g.238772637T>G | NCBI36 |
NG_053136.1:g.74659A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000318160.5:c.-1-49238A>C MANE Select | ENSP00000318650.4:n.-1-49238A>C | |
ENST00000318160.4:c.-1-49238A>C | ENSP00000318650.4:n.-1-49238A>C | |
NM_022469.3:c.-1-49238A>C | NP_071914.3:n.-1-49238A>C | |
XM_011544249.1:c.-121-45117A>C | XP_011542551.1:n.-121-45117A>C | |
XM_011544249.2:c.-121-45117A>C | XP_011542551.1:n.-121-45117A>C | |
NM_022469.4:c.-1-49238A>C MANE Select | NP_071914.3:n.-1-49238A>C |