HGVS | Genome Assembly |
---|---|
NC_000003.12:g.191357034T>C , CM000665.2:g.191357034T>C | GRCh38 |
NC_000003.11:g.191074823T>C , CM000665.1:g.191074823T>C | GRCh37 |
NC_000003.10:g.192557517T>C | NCBI36 |
NG_008994.1:g.32950T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392455.9:c.50-54T>C MANE Select | ENSP00000376249.4:n.50-54T>C | |
ENST00000392456.4:c.50-54T>C | ENSP00000376250.4:n.50-54T>C | |
ENST00000392455.7:c.50-54T>C | ENSP00000376249.3:n.50-54T>C | |
ENST00000392456.3:c.50-54T>C | ENSP00000376250.3:n.50-54T>C | |
NM_174908.3:c.50-54T>C | NP_777568.1:n.50-54T>C | |
NM_178335.2:c.50-54T>C | NP_848018.1:n.50-54T>C | |
XM_011512460.1:c.50-54T>C | XP_011510762.1:n.50-54T>C | |
NM_178335.3:c.50-54T>C MANE Select | NP_848018.1:n.50-54T>C | |
NM_174908.4:c.50-54T>C | NP_777568.1:n.50-54T>C |