Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942875C>A , CM000678.2:g.67942875C>A | GRCh38 |
| NC_000016.9:g.67976778C>A , CM000678.1:g.67976778C>A | GRCh37 |
| NC_000016.8:g.66534279C>A | NCBI36 |
| NG_009778.1:g.6238G>T | |
| NG_033098.1:g.30820G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.413G>T MANE Select | ENSP00000264005.5:p.Ser138Ile | |
| ENST00000264005.9:c.413G>T | ENSP00000264005.5:p.Ser138Ile | |
| ENST00000570369.5:c.141G>T | ||
| ENST00000570980.1:c.197G>T | ENSP00000464651.1:p.Ser66Ile | |
| ENST00000573538.5:c.56G>T | ENSP00000463220.1:p.Ser19Ile | |
| ENST00000573846.1:n.27G>T | ||
| ENST00000575277.1:n.191G>T | ||
| ENST00000575467.5:c.*108G>T | ENSP00000460653.1:n.*108G>T | |
| NM_000229.1:c.413G>T | NP_000220.1:p.Ser138Ile | |
| NM_000229.2:c.413G>T MANE Select | NP_000220.1:p.Ser138Ile |