HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232539854G= , CM000664.2:g.232539854G= | GRCh38 |
NC_000002.11:g.233404564G= , CM000664.1:g.233404564G= | GRCh37 |
NC_000002.10:g.233112808G= | NCBI36 |
NG_012954.1:g.5128G= | |
NG_012954.2:g.5163G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.55+52G= MANE Select | ENSP00000498757.1:n.55+52G= | |
ENST00000389492.3:c.55+52G= | ENSP00000374143.3:n.55+52G= | |
ENST00000389494.7:c.55+52G= | ENSP00000374145.3:n.55+52G= | |
ENST00000485094.1:n.76+52G= | ||
NM_005199.4:c.55+52G= | NP_005190.4:n.55+52G= | |
NM_005199.5:c.55+52G= MANE Select | NP_005190.4:n.55+52G= |