HGVS | Genome Assembly |
---|---|
NC_000017.11:g.13573764T>C , CM000679.2:g.13573764T>C | GRCh38 |
NC_000017.10:g.13477081T>C , CM000679.1:g.13477081T>C | GRCh37 |
NC_000017.9:g.13417806T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284110.2:c.599+26767A>G MANE Select | ENSP00000284110.1:n.599+26767A>G | |
ENST00000284110.1:c.599+26767A>G | ENSP00000284110.1:n.599+26767A>G | |
NM_006042.2:c.599+26767A>G | NP_006033.1:n.599+26767A>G | |
NM_006042.3:c.599+26767A>G MANE Select | NP_006033.1:n.599+26767A>G |