HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86574091T>C , CM000670.2:g.86574091T>C | GRCh38 |
NC_000008.10:g.87586319T>C , CM000670.1:g.87586319T>C | GRCh37 |
NC_000008.9:g.87655435T>C | NCBI36 |
NG_016980.1:g.174585A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000681746.1:c.*2554A>G | ENSP00000505959.1:n.*2554A>G | |
ENST00000320005.5:c.*1713A>G | ENSP00000316605.5:n.*1713A>G | |
ENST00000517327.5:c.276+4598A>G | ENSP00000428329.1:n.276+4598A>G | |
NM_019098.4:c.*1713A>G | NP_061971.3:n.*1713A>G | |
XM_011517138.1:c.*1713A>G | XP_011515440.1:n.*1713A>G | |
XM_011517138.2:c.*1713A>G | XP_011515440.1:n.*1713A>G |