Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942860C>A , CM000678.2:g.67942860C>A | GRCh38 |
| NC_000016.9:g.67976763C>A , CM000678.1:g.67976763C>A | GRCh37 |
| NC_000016.8:g.66534264C>A | NCBI36 |
| NG_009778.1:g.6253G>T | |
| NG_033098.1:g.30835G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.427+1G>T MANE Select | ENSP00000264005.5:n.427+1G>T | |
| ENST00000264005.9:c.427+1G>T | ENSP00000264005.5:n.427+1G>T | |
| ENST00000570369.5:c.155+1G>T | ||
| ENST00000570980.1:c.211+1G>T | ENSP00000464651.1:n.211+1G>T | |
| ENST00000573538.5:c.70+1G>T | ENSP00000463220.1:n.70+1G>T | |
| ENST00000573846.1:n.41+1G>T | ||
| ENST00000575277.1:n.205+1G>T | ||
| ENST00000575467.5:c.*122+1G>T | ENSP00000460653.1:n.*122+1G>T | |
| NM_000229.1:c.427+1G>T | NP_000220.1:n.427+1G>T | |
| NM_000229.2:c.427+1G>T MANE Select | NP_000220.1:n.427+1G>T |