HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75135054A>C , CM000676.2:g.75135054A>C | GRCh38 |
NC_000014.8:g.75601757A>C , CM000676.1:g.75601757A>C | GRCh37 |
NC_000014.7:g.74671510A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303575.9:c.539-48T>G MANE Select | ENSP00000303145.4:n.539-48T>G | |
ENST00000303575.8:c.539-48T>G | ENSP00000303145.4:n.539-48T>G | |
ENST00000555036.1:n.322-48T>G | ||
ENST00000555873.1:c.*175-48T>G | ENSP00000450726.1:n.*175-48T>G | |
ENST00000556969.5:n.246-48T>G | ||
ENST00000557670.5:n.267-48T>G | ||
NM_006827.5:c.539-48T>G | NP_006818.3:n.539-48T>G | |
NM_006827.6:c.539-48T>G MANE Select | NP_006818.3:n.539-48T>G |