HGVS | Genome Assembly |
---|---|
NC_000011.10:g.45898159G>A , CM000673.2:g.45898159G>A | GRCh38 |
NC_000011.9:g.45919710G>A , CM000673.1:g.45919710G>A | GRCh37 |
NC_000011.8:g.45876286G>A | NCBI36 |
NG_012153.1:g.17509G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000241014.6:c.176G>A MANE Select | ENSP00000241014.2:p.Ser59Asn | |
ENST00000395629.2:c.146G>A | ENSP00000378991.2:p.Ser49Asn | |
NM_005456.3:c.176G>A | NP_005447.1:p.Ser59Asn | |
XM_005253226.2:c.146G>A | XP_005253283.1:p.Ser49Asn | |
NM_005456.4:c.176G>A MANE Select | NP_005447.1:p.Ser59Asn |