HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94426422G>T , CM000669.2:g.94426422G>T | GRCh38 |
NC_000007.13:g.94055734G>T , CM000669.1:g.94055734G>T | GRCh37 |
NC_000007.12:g.93893670G>T | NCBI36 |
NG_007405.1:g.36862G>T , LRG_2:g.36862G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2998-1G>T MANE Select | ENSP00000297268.6:n.2998-1G>T | |
ENST00000297268.10:c.2998-1G>T | ENSP00000297268.6:n.2998-1G>T | |
ENST00000478215.1:n.557-1G>T | ||
ENST00000481570.5:n.2971-1G>T | ||
ENST00000620463.1:c.2992-1G>T | ENSP00000477719.1:n.2992-1G>T | |
NM_000089.3:c.2998-1G>T , LRG_2t1:c.2998-1G>T | NP_000080.2:n.2998-1G>T | |
NM_000089.4:c.2998-1G>T MANE Select | NP_000080.2:n.2998-1G>T |