HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35797806C>A , CM000668.2:g.35797806C>A | GRCh38 |
NC_000006.11:g.35765583C>A , CM000668.1:g.35765583C>A | GRCh37 |
NC_000006.10:g.35873561C>A | NCBI36 |
NG_012184.3:g.5601C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651132.1:c.-255+347C>A | ENSP00000498322.1:n.-255+347C>A | |
XM_011514403.1:c.-135+347C>A | XP_011512705.1:n.-135+347C>A |