HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95318549A>G , CM000669.2:g.95318549A>G | GRCh38 |
NC_000007.13:g.94947861A>G , CM000669.1:g.94947861A>G | GRCh37 |
NC_000007.12:g.94785797A>G | NCBI36 |
NG_008779.1:g.11024T>C | |
NG_008779.2:g.11158T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222381.8:c.75-156T>C MANE Select | ENSP00000222381.3:n.75-156T>C | |
ENST00000222381.7:c.75-156T>C | ENSP00000222381.3:n.75-156T>C | |
ENST00000433729.1:c.75-156T>C | ENSP00000407359.1:n.75-156T>C | |
ENST00000470502.1:n.39T>C | ||
NM_000446.5:c.75-156T>C | NP_000437.3:n.75-156T>C | |
NM_000446.6:c.75-156T>C | NP_000437.3:n.75-156T>C | |
NM_000446.7:c.75-156T>C MANE Select | NP_000437.3:n.75-156T>C |