HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21619169G>A , CM000669.2:g.21619169G>A | GRCh38 |
NC_000007.13:g.21658787G>A , CM000669.1:g.21658787G>A | GRCh37 |
NC_000007.12:g.21625312G>A | NCBI36 |
NG_012886.2:g.80955G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.4324G>A MANE Select | ENSP00000475939.1:p.Asp1442Asn | |
ENST00000328843.10:c.4339G>A | ENSP00000330671.7:p.Asp1447Asn | |
ENST00000409508.7:c.4324G>A | ENSP00000475939.1:p.Asp1442Asn | |
ENST00000465593.1:n.350G>A | ||
ENST00000620169.4:c.4339G>A | ENSP00000481693.1:p.Asp1447Asn | |
NM_001277115.1:c.4324G>A | NP_001264044.1:p.Asp1442Asn | |
NM_001277115.2:c.4324G>A MANE Select | NP_001264044.1:p.Asp1442Asn |