Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87714864G>T , CM000672.2:g.87714864G>T | GRCh38 |
| NC_000010.10:g.89474621G>T , CM000672.1:g.89474621G>T | GRCh37 |
| NC_000010.9:g.89464601G>T | NCBI36 |
| NG_012150.1:g.60146G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.639+1G>T MANE Select | ENSP00000406157.1:n.639+1G>T | |
| ENST00000361175.8:c.639+1G>T | ENSP00000354436.4:n.639+1G>T | |
| ENST00000456849.1:c.639+1G>T | ENSP00000406157.1:n.639+1G>T | |
| NM_001015880.1:c.639+1G>T | NP_001015880.1:n.639+1G>T | |
| NM_004670.3:c.639+1G>T | NP_004661.2:n.639+1G>T | |
| NM_001015880.2:c.639+1G>T MANE Select | NP_001015880.1:n.639+1G>T | |
| NM_004670.4:c.639+1G>T | NP_004661.2:n.639+1G>T |