HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232541571G>A , CM000664.2:g.232541571G>A | GRCh38 |
NC_000002.11:g.233406281G>A , CM000664.1:g.233406281G>A | GRCh37 |
NC_000002.10:g.233114525G>A | NCBI36 |
NG_012954.1:g.6845G>A | |
NG_012954.2:g.6880G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.506+42G>A MANE Select | ENSP00000498757.1:n.506+42G>A | |
ENST00000389492.3:c.351-852G>A | ENSP00000374143.3:n.351-852G>A | |
ENST00000389494.7:c.506+42G>A | ENSP00000374145.3:n.506+42G>A | |
ENST00000485094.1:n.569G>A | ||
NM_005199.4:c.506+42G>A | NP_005190.4:n.506+42G>A | |
NM_005199.5:c.506+42G>A MANE Select | NP_005190.4:n.506+42G>A |