HGVS | Genome Assembly |
---|---|
NC_000018.10:g.63126316C>A , CM000680.2:g.63126316C>A | GRCh38 |
NC_000018.9:g.60793549C>A , CM000680.1:g.60793549C>A | GRCh37 |
NC_000018.8:g.58944529C>A | NCBI36 |
NG_009361.1:g.198065G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333681.5:c.*2309G>T MANE Select | ENSP00000329623.3:n.*2309G>T | |
ENST00000677635.1:n.2593G>T | ||
ENST00000678134.1:c.3233G>T | ENSP00000503628.1:n.3233G>T | |
ENST00000678301.1:c.*2309G>T | ENSP00000504546.1:n.*2309G>T | |
ENST00000678349.1:c.3581G>T | ENSP00000504190.1:n.3581G>T | |
ENST00000398117.1:c.*2309G>T | ENSP00000381185.1:n.*2309G>T | |
NM_000633.2:c.*2309G>T | NP_000624.2:n.*2309G>T | |
NM_000633.3:c.*2309G>T MANE Select | NP_000624.2:n.*2309G>T |