HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94426503T>G , CM000669.2:g.94426503T>G | GRCh38 |
NC_000007.13:g.94055815T>G , CM000669.1:g.94055815T>G | GRCh37 |
NC_000007.12:g.93893751T>G | NCBI36 |
NG_007405.1:g.36943T>G , LRG_2:g.36943T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.3078T>G MANE Select | ENSP00000297268.6:p.Asn1026Lys | |
ENST00000297268.10:c.3078T>G | ENSP00000297268.6:p.Asn1026Lys | |
ENST00000478215.1:n.637T>G | ||
ENST00000481570.5:n.3051T>G | ||
ENST00000620463.1:c.3072T>G | ENSP00000477719.1:p.Asn1024Lys | |
NM_000089.3:c.3078T>G , LRG_2t1:c.3078T>G | NP_000080.2:p.Asn1026Lys | |
NM_000089.4:c.3078T>G MANE Select | NP_000080.2:p.Asn1026Lys |