HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7648805C>T , CM000679.2:g.7648805C>T | GRCh38 |
NC_000017.10:g.7552123C>T , CM000679.1:g.7552123C>T | GRCh37 |
NC_000017.9:g.7492848C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000577026.5:c.-6+2104C>T | ENSP00000459145.1:n.-6+2104C>T | |
NM_001303263.1:c.-6+2104C>T | NP_001290192.1:n.-6+2104C>T | |
NM_001303263.2:c.-6+2104C>T | NP_001290192.1:n.-6+2104C>T |