HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37768113G>A , CM000684.2:g.37768113G>A | GRCh38 |
NC_000022.10:g.38164120G>A , CM000684.1:g.38164120G>A | GRCh37 |
NC_000022.9:g.36494066G>A | NCBI36 |
NG_012857.1:g.76126G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.6512G>A MANE Select | ENSP00000496394.1:p.Ser2171Asn | |
ENST00000344404.10:c.*5995G>A | ENSP00000340312.6:n.*5995G>A | |
ENST00000403663.6:c.1373G>A | ENSP00000386026.2:p.Ser458Asn | |
ENST00000406386.7:c.6512G>A | ENSP00000384312.3:p.Ser2171Asn | |
NM_001039141.2:c.6512G>A | NP_001034230.1:p.Ser2171Asn | |
NM_007032.5:c.1373G>A | NP_008963.3:p.Ser458Asn | |
NM_001039141.3:c.6512G>A MANE Select | NP_001034230.1:p.Ser2171Asn |