HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94426545G>T , CM000669.2:g.94426545G>T | GRCh38 |
NC_000007.13:g.94055857G>T , CM000669.1:g.94055857G>T | GRCh37 |
NC_000007.12:g.93893793G>T | NCBI36 |
NG_007405.1:g.36985G>T , LRG_2:g.36985G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.3105+15G>T MANE Select | ENSP00000297268.6:n.3105+15G>T | |
ENST00000297268.10:c.3105+15G>T | ENSP00000297268.6:n.3105+15G>T | |
ENST00000478215.1:n.679G>T | ||
ENST00000481570.5:n.3093G>T | ||
ENST00000488121.1:n.21+15G>T | ||
ENST00000620463.1:c.3099+15G>T | ENSP00000477719.1:n.3099+15G>T | |
NM_000089.3:c.3105+15G>T , LRG_2t1:c.3105+15G>T | NP_000080.2:n.3105+15G>T | |
NM_000089.4:c.3105+15G>T MANE Select | NP_000080.2:n.3105+15G>T |