Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87709314G>C , CM000672.2:g.87709314G>C | GRCh38 |
| NC_000010.10:g.89469071G>C , CM000672.1:g.89469071G>C | GRCh37 |
| NC_000010.9:g.89459051G>C | NCBI36 |
| NG_012150.1:g.54596G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.145+1G>C MANE Select | ENSP00000406157.1:n.145+1G>C | |
| ENST00000361175.8:c.145+1G>C | ENSP00000354436.4:n.145+1G>C | |
| ENST00000456849.1:c.145+1G>C | ENSP00000406157.1:n.145+1G>C | |
| ENST00000465996.5:n.167+1G>C | ||
| ENST00000482258.1:n.188+1G>C | ||
| NM_001015880.1:c.145+1G>C | NP_001015880.1:n.145+1G>C | |
| NM_004670.3:c.145+1G>C | NP_004661.2:n.145+1G>C | |
| NM_001015880.2:c.145+1G>C MANE Select | NP_001015880.1:n.145+1G>C | |
| NM_004670.4:c.145+1G>C | NP_004661.2:n.145+1G>C |