HGVS | Genome Assembly |
---|---|
NC_000015.10:g.26773701G>A , CM000677.2:g.26773701G>A | GRCh38 |
NC_000015.9:g.27018848G>A , CM000677.1:g.27018848G>A | GRCh37 |
NC_000015.8:g.24569941G>A | NCBI36 |
NG_012836.1:g.5080C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299267.9:c.24C>T | ENSP00000299267.4:p.Leu8= | |
ENST00000638099.1:c.-20+242C>T | ENSP00000490678.1:n.-20+242C>T | |
ENST00000299267.8:c.24C>T | ENSP00000299267.4:p.Leu8= | |
ENST00000541819.6:c.249-929C>T | ENSP00000442408.2:n.249-929C>T | |
ENST00000554722.1:n.51C>T | ||
ENST00000557641.5:n.453-929C>T | ||
NM_021912.4:c.24C>T | NP_068712.1:p.Leu8= | |
NM_021912.5:c.24C>T | NP_068712.1:p.Leu8= |