HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37768137G>A , CM000684.2:g.37768137G>A | GRCh38 |
NC_000022.10:g.38164144G>A , CM000684.1:g.38164144G>A | GRCh37 |
NC_000022.9:g.36494090G>A | NCBI36 |
NG_012857.1:g.76150G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.6536G>A MANE Select | ENSP00000496394.1:p.Ser2179Asn | |
ENST00000344404.10:c.*6019G>A | ENSP00000340312.6:n.*6019G>A | |
ENST00000403663.6:c.1397G>A | ENSP00000386026.2:p.Ser466Asn | |
ENST00000406386.7:c.6536G>A | ENSP00000384312.3:p.Ser2179Asn | |
NM_001039141.2:c.6536G>A | NP_001034230.1:p.Ser2179Asn | |
NM_007032.5:c.1397G>A | NP_008963.3:p.Ser466Asn | |
NM_001039141.3:c.6536G>A MANE Select | NP_001034230.1:p.Ser2179Asn |