HGVS | Genome Assembly |
---|---|
NC_000006.12:g.116882322G>T , CM000668.2:g.116882322G>T | GRCh38 |
NC_000006.11:g.117203485G>T , CM000668.1:g.117203485G>T | GRCh37 |
NC_000006.10:g.117310178G>T | NCBI36 |
NG_027699.1:g.10110G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332958.3:c.505-45G>T MANE Select | ENSP00000332208.2:n.505-45G>T | |
ENST00000332958.2:c.505-45G>T | ENSP00000332208.2:n.505-45G>T | |
ENST00000487683.5:n.569-45G>T | ||
NM_173560.3:c.505-45G>T | NP_775831.2:n.505-45G>T | |
XM_011535589.1:c.505-45G>T | XP_011533891.1:n.505-45G>T | |
XM_017010477.1:c.127-45G>T | XP_016865966.1:n.127-45G>T | |
NM_173560.4:c.505-45G>T MANE Select | NP_775831.2:n.505-45G>T |