HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94426577T>G , CM000669.2:g.94426577T>G | GRCh38 |
NC_000007.13:g.94055889T>G , CM000669.1:g.94055889T>G | GRCh37 |
NC_000007.12:g.93893825T>G | NCBI36 |
NG_007405.1:g.37017T>G , LRG_2:g.37017T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.3105+47T>G MANE Select | ENSP00000297268.6:n.3105+47T>G | |
ENST00000297268.10:c.3105+47T>G | ENSP00000297268.6:n.3105+47T>G | |
ENST00000478215.1:n.711T>G | ||
ENST00000481570.5:n.3125T>G | ||
ENST00000488121.1:n.21+47T>G | ||
ENST00000620463.1:c.3099+47T>G | ENSP00000477719.1:n.3099+47T>G | |
NM_000089.3:c.3105+47T>G , LRG_2t1:c.3105+47T>G | NP_000080.2:n.3105+47T>G | |
NM_000089.4:c.3105+47T>G MANE Select | NP_000080.2:n.3105+47T>G |