HGVS | Genome Assembly |
---|---|
NC_000006.12:g.116882306G>C , CM000668.2:g.116882306G>C | GRCh38 |
NC_000006.11:g.117203469G>C , CM000668.1:g.117203469G>C | GRCh37 |
NC_000006.10:g.117310162G>C | NCBI36 |
NG_027699.1:g.10094G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000332958.3:c.505-61G>C MANE Select | ENSP00000332208.2:n.505-61G>C | |
ENST00000332958.2:c.505-61G>C | ENSP00000332208.2:n.505-61G>C | |
ENST00000487683.5:n.569-61G>C | ||
NM_173560.3:c.505-61G>C | NP_775831.2:n.505-61G>C | |
XM_011535589.1:c.505-61G>C | XP_011533891.1:n.505-61G>C | |
XM_017010477.1:c.127-61G>C | XP_016865966.1:n.127-61G>C | |
NM_173560.4:c.505-61G>C MANE Select | NP_775831.2:n.505-61G>C |