HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67942971A>G , CM000678.2:g.67942971A>G | GRCh38 |
NC_000016.9:g.67976874A>G , CM000678.1:g.67976874A>G | GRCh37 |
NC_000016.8:g.66534375A>G | NCBI36 |
NG_009778.1:g.6142T>C | |
NG_033098.1:g.30724T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264005.10:c.317T>C MANE Select | ENSP00000264005.5:p.Val106Ala | |
ENST00000264005.9:c.317T>C | ENSP00000264005.5:p.Val106Ala | |
ENST00000570369.5:c.45T>C | ||
ENST00000570980.1:c.101T>C | ENSP00000464651.1:p.Val34Ala | |
ENST00000575277.1:n.95T>C | ||
ENST00000575467.5:c.*12T>C | ENSP00000460653.1:n.*12T>C | |
NM_000229.1:c.317T>C | NP_000220.1:p.Val106Ala | |
NM_000229.2:c.317T>C MANE Select | NP_000220.1:p.Val106Ala |