HGVS | Genome Assembly |
---|---|
NC_000023.11:g.108084615C>T , CM000685.2:g.108084615C>T | GRCh38 |
NC_000023.10:g.107327845C>T , CM000685.1:g.107327845C>T | GRCh37 |
NC_000023.9:g.107214501C>T | NCBI36 |
NG_012521.1:g.12004G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217958.8:c.*359G>A MANE Select | ENSP00000217958.3:n.*359G>A | |
ENST00000217958.7:c.*359G>A | ENSP00000217958.3:n.*359G>A | |
ENST00000372296.5:c.*505G>A | ENSP00000361370.1:n.*505G>A | |
NM_002814.3:c.*359G>A | NP_002805.1:n.*359G>A | |
NM_170750.2:c.*505G>A | NP_736606.1:n.*505G>A | |
NM_002814.4:c.*359G>A MANE Select | NP_002805.1:n.*359G>A | |
NM_170750.3:c.*505G>A | NP_736606.1:n.*505G>A |