HGVS | Genome Assembly |
---|---|
NC_000023.11:g.22033074G>T , CM000685.2:g.22033074G>T | GRCh38 |
NC_000023.10:g.22051192G>T , CM000685.1:g.22051192G>T | GRCh37 |
NC_000023.9:g.21961113G>T | NCBI36 |
NG_007563.2:g.5272G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000475778.2:n.495G>T | ||
ENST00000683214.1:n.495G>T | ||
ENST00000684143.1:c.69G>T | ENSP00000508264.1:p.Leu23= | |
ENST00000379374.5:c.69G>T MANE Select | ENSP00000368682.4:p.Leu23= | |
ENST00000379374.4:c.69G>T | ENSP00000368682.4:p.Leu23= | |
NM_000444.5:c.69G>T | NP_000435.3:p.Leu23= | |
NM_001282754.1:c.69G>T | NP_001269683.1:p.Leu23= | |
XM_011545535.1:c.69G>T | XP_011543837.1:p.Leu23= | |
XR_001755695.1:n.748G>T | ||
NM_000444.6:c.69G>T MANE Select | NP_000435.3:p.Leu23= | |
NM_001282754.2:c.69G>T | NP_001269683.1:p.Leu23= |