HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232539893C>A , CM000664.2:g.232539893C>A | GRCh38 |
NC_000002.11:g.233404603C>A , CM000664.1:g.233404603C>A | GRCh37 |
NC_000002.10:g.233112847C>A | NCBI36 |
NG_012954.1:g.5167C>A | |
NG_012954.2:g.5202C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.55+91C>A MANE Select | ENSP00000498757.1:n.55+91C>A | |
ENST00000389492.3:c.55+91C>A | ENSP00000374143.3:n.55+91C>A | |
ENST00000389494.7:c.55+91C>A | ENSP00000374145.3:n.55+91C>A | |
ENST00000485094.1:n.76+91C>A | ||
NM_005199.4:c.55+91C>A | NP_005190.4:n.55+91C>A | |
NM_005199.5:c.55+91C>A MANE Select | NP_005190.4:n.55+91C>A |