HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2326025C>A , CM000678.2:g.2326025C>A | GRCh38 |
NC_000016.9:g.2376026C>A , CM000678.1:g.2376026C>A | GRCh37 |
NC_000016.8:g.2316027C>A | NCBI36 |
NG_011790.1:g.19722G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.304G>T MANE Select | ENSP00000301732.5:p.Val102Leu | |
ENST00000301732.9:c.304G>T | ENSP00000301732.5:p.Val102Leu | |
ENST00000382381.7:c.304G>T | ENSP00000371818.3:p.Val102Leu | |
ENST00000563623.5:n.867G>T | ||
ENST00000567910.1:c.304G>T | ENSP00000454397.1:p.Val102Leu | |
NM_001089.2:c.304G>T | NP_001080.2:p.Val102Leu | |
NM_001089.3:c.304G>T MANE Select | NP_001080.2:p.Val102Leu |