HGVS | Genome Assembly |
---|---|
NC_000002.12:g.102532555A>C , CM000664.2:g.102532555A>C | GRCh38 |
NC_000002.11:g.103149014A>C , CM000664.1:g.103149014A>C | GRCh37 |
NC_000002.10:g.102515446A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295269.5:c.2264A>C MANE Select | ENSP00000295269.4:p.Asp755Ala | |
ENST00000295269.4:c.2264A>C | ENSP00000295269.4:p.Asp755Ala | |
NM_001011552.3:c.2264A>C | NP_001011552.2:p.Asp755Ala | |
XM_011511158.1:c.2177A>C | XP_011509460.1:p.Asp726Ala | |
NM_001011552.4:c.2264A>C MANE Select | NP_001011552.2:p.Asp755Ala |