HGVS | Genome Assembly |
---|---|
NC_000010.11:g.96508362T>C , CM000672.2:g.96508362T>C | GRCh38 |
NC_000010.10:g.98268119T>C , CM000672.1:g.98268119T>C | GRCh37 |
NC_000010.9:g.98258109T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000357947.4:c.175+5149A>G MANE Select | ENSP00000350630.3:n.175+5149A>G | |
ENST00000357947.3:c.175+5149A>G | ENSP00000350630.3:n.175+5149A>G | |
ENST00000469598.1:n.408+5149A>G | ||
NM_012465.3:c.175+5149A>G | NP_036597.1:n.175+5149A>G | |
NM_012465.4:c.175+5149A>G MANE Select | NP_036597.1:n.175+5149A>G |