HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78118292G>A , CM000685.2:g.78118292G>A | GRCh38 |
NC_000023.10:g.77373789G>A , CM000685.1:g.77373789G>A | GRCh37 |
NC_000023.9:g.77260445G>A | NCBI36 |
NG_008862.1:g.19124G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373316.5:c.641+122G>A MANE Select | ENSP00000362413.4:n.641+122G>A | |
ENST00000644362.1:c.557+122G>A | ENSP00000496140.1:n.557+122G>A | |
ENST00000373316.4:c.641+122G>A | ENSP00000362413.4:n.641+122G>A | |
ENST00000491291.1:n.633+122G>A | ||
NM_000291.3:c.641+122G>A | NP_000282.1:n.641+122G>A | |
NM_000291.4:c.641+122G>A MANE Select | NP_000282.1:n.641+122G>A |