HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37713397A>T , CM000684.2:g.37713397A>T | GRCh38 |
NC_000022.10:g.38109404A>T , CM000684.1:g.38109404A>T | GRCh37 |
NC_000022.9:g.36439350A>T | NCBI36 |
NG_012857.1:g.21410A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.442A>T MANE Select | ENSP00000496394.1:p.Asn148Tyr | |
ENST00000344404.10:c.255-2366A>T | ENSP00000340312.6:n.255-2366A>T | |
ENST00000406386.7:c.442A>T | ENSP00000384312.3:p.Asn148Tyr | |
ENST00000455236.4:c.1399A>T | ENSP00000477208.1:n.1399A>T | |
ENST00000492485.5:n.391-2366A>T | ||
NM_001039141.2:c.442A>T | NP_001034230.1:p.Asn148Tyr | |
NM_001039141.3:c.442A>T MANE Select | NP_001034230.1:p.Asn148Tyr |