Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942970G>A , CM000678.2:g.67942970G>A | GRCh38 |
| NC_000016.9:g.67976873G>A , CM000678.1:g.67976873G>A | GRCh37 |
| NC_000016.8:g.66534374G>A | NCBI36 |
| NG_009778.1:g.6143C>T | |
| NG_033098.1:g.30725C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.318C>T MANE Select | ENSP00000264005.5:p.Val106= | |
| ENST00000264005.9:c.318C>T | ENSP00000264005.5:p.Val106= | |
| ENST00000570369.5:c.46C>T | ||
| ENST00000570980.1:c.102C>T | ENSP00000464651.1:p.Val34= | |
| ENST00000575277.1:n.96C>T | ||
| ENST00000575467.5:c.*13C>T | ENSP00000460653.1:n.*13C>T | |
| NM_000229.1:c.318C>T | NP_000220.1:p.Val106= | |
| NM_000229.2:c.318C>T MANE Select | NP_000220.1:p.Val106= |