Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942969A>G , CM000678.2:g.67942969A>G | GRCh38 |
| NC_000016.9:g.67976872A>G , CM000678.1:g.67976872A>G | GRCh37 |
| NC_000016.8:g.66534373A>G | NCBI36 |
| NG_009778.1:g.6144T>C | |
| NG_033098.1:g.30726T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.319T>C MANE Select | ENSP00000264005.5:p.Tyr107His | |
| ENST00000264005.9:c.319T>C | ENSP00000264005.5:p.Tyr107His | |
| ENST00000570369.5:c.47T>C | ||
| ENST00000570980.1:c.103T>C | ENSP00000464651.1:p.Tyr35His | |
| ENST00000575277.1:n.97T>C | ||
| ENST00000575467.5:c.*14T>C | ENSP00000460653.1:n.*14T>C | |
| NM_000229.1:c.319T>C | NP_000220.1:p.Tyr107His | |
| NM_000229.2:c.319T>C MANE Select | NP_000220.1:p.Tyr107His |