HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86574317C>G , CM000670.2:g.86574317C>G | GRCh38 |
NC_000008.10:g.87586545C>G , CM000670.1:g.87586545C>G | GRCh37 |
NC_000008.9:g.87655661C>G | NCBI36 |
NG_016980.1:g.174359G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320005.6:c.*1487G>C MANE Select | ENSP00000316605.5:n.*1487G>C | |
ENST00000681546.1:n.3737G>C | ||
ENST00000681746.1:c.*2328G>C | ENSP00000505959.1:n.*2328G>C | |
ENST00000320005.5:c.*1487G>C | ENSP00000316605.5:n.*1487G>C | |
ENST00000517327.5:c.276+4372G>C | ENSP00000428329.1:n.276+4372G>C | |
NM_019098.4:c.*1487G>C | NP_061971.3:n.*1487G>C | |
XM_011517138.1:c.*1487G>C | XP_011515440.1:n.*1487G>C | |
XM_011517138.2:c.*1487G>C | XP_011515440.1:n.*1487G>C | |
NM_019098.5:c.*1487G>C MANE Select | NP_061971.3:n.*1487G>C |