HGVS | Genome Assembly |
---|---|
NC_000003.12:g.72375320A>G , CM000665.2:g.72375320A>G | GRCh38 |
NC_000003.11:g.72424471A>G , CM000665.1:g.72424471A>G | GRCh37 |
NC_000003.10:g.72507161A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000477973.5:c.3720T>C | ||
ENST00000477973.4:c.3722T>C | ENSP00000419494.3:n.3722T>C | |
ENST00000676660.1:n.4797T>C | ||
ENST00000677329.1:n.3722T>C | ||
ENST00000477973.2:c.4017T>C |