Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942872C>A , CM000678.2:g.67942872C>A | GRCh38 |
| NC_000016.9:g.67976775C>A , CM000678.1:g.67976775C>A | GRCh37 |
| NC_000016.8:g.66534276C>A | NCBI36 |
| NG_009778.1:g.6241G>T | |
| NG_033098.1:g.30823G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.416G>T MANE Select | ENSP00000264005.5:p.Ser139Ile | |
| ENST00000264005.9:c.416G>T | ENSP00000264005.5:p.Ser139Ile | |
| ENST00000570369.5:c.144G>T | ||
| ENST00000570980.1:c.200G>T | ENSP00000464651.1:p.Ser67Ile | |
| ENST00000573538.5:c.59G>T | ENSP00000463220.1:p.Ser20Ile | |
| ENST00000573846.1:n.30G>T | ||
| ENST00000575277.1:n.194G>T | ||
| ENST00000575467.5:c.*111G>T | ENSP00000460653.1:n.*111G>T | |
| NM_000229.1:c.416G>T | NP_000220.1:p.Ser139Ile | |
| NM_000229.2:c.416G>T MANE Select | NP_000220.1:p.Ser139Ile |