HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21619116A>G , CM000669.2:g.21619116A>G | GRCh38 |
NC_000007.13:g.21658734A>G , CM000669.1:g.21658734A>G | GRCh37 |
NC_000007.12:g.21625259A>G | NCBI36 |
NG_012886.2:g.80902A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.4271A>G MANE Select | ENSP00000475939.1:p.Asn1424Ser | |
ENST00000328843.10:c.4286A>G | ENSP00000330671.7:p.Asn1429Ser | |
ENST00000409508.7:c.4271A>G | ENSP00000475939.1:p.Asn1424Ser | |
ENST00000465593.1:n.297A>G | ||
ENST00000620169.4:c.4286A>G | ENSP00000481693.1:p.Asn1429Ser | |
NM_001277115.1:c.4271A>G | NP_001264044.1:p.Asn1424Ser | |
NM_001277115.2:c.4271A>G MANE Select | NP_001264044.1:p.Asn1424Ser |