HGVS | Genome Assembly |
---|---|
NC_000004.12:g.185144883C>A , CM000666.2:g.185144883C>A | GRCh38 |
NC_000004.11:g.186066037C>A , CM000666.1:g.186066037C>A | GRCh37 |
NC_000004.10:g.186303031C>A | NCBI36 |
NG_013001.1:g.6621C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000281456.11:c.231C>A MANE Select | ENSP00000281456.5:p.Asn77Lys | |
ENST00000281456.10:c.231C>A | ENSP00000281456.5:p.Asn77Lys | |
ENST00000491736.1:c.231C>A | ENSP00000476711.1:p.Asn77Lys | |
NM_001151.3:c.231C>A | NP_001142.2:p.Asn77Lys | |
NM_001151.4:c.231C>A MANE Select | NP_001142.2:p.Asn77Lys |