HGVS | Genome Assembly |
---|---|
NC_000015.10:g.23644448T>G , CM000677.2:g.23644448T>G | GRCh38 |
NC_000015.9:g.23889595T>G , CM000677.1:g.23889595T>G | GRCh37 |
NC_000015.8:g.21440688T>G | NCBI36 |
NG_016776.1:g.8399A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650528.1:c.3295A>C MANE Select | ENSP00000497810.1:p.Asn1099His | |
ENST00000532292.2:c.3295A>C | ENSP00000433433.2:p.Asn1099His | |
NM_019066.4:c.3295A>C | NP_061939.3:p.Asn1099His | |
NM_019066.5:c.3295A>C MANE Select | NP_061939.3:p.Asn1099His |