dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87683553T>A , CM000672.2:g.87683553T>A | GRCh38 |
| NC_000010.10:g.89443310T>A , CM000672.1:g.89443310T>A | GRCh37 |
| NC_000010.9:g.89433290T>A | NCBI36 |
| NG_012150.1:g.28835T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.27+23545T>A MANE Select | ENSP00000406157.1:n.27+23545T>A | |
| ENST00000361175.8:c.27+23545T>A | ENSP00000354436.4:n.27+23545T>A | |
| ENST00000456849.1:c.27+23545T>A | ENSP00000406157.1:n.27+23545T>A | |
| ENST00000465996.5:n.49+23148T>A | ||
| ENST00000482258.1:n.70+22500T>A | ||
| NM_001015880.1:c.27+23545T>A | NP_001015880.1:n.27+23545T>A | |
| NM_004670.3:c.27+23545T>A | NP_004661.2:n.27+23545T>A | |
| NM_001015880.2:c.27+23545T>A MANE Select | NP_001015880.1:n.27+23545T>A | |
| NM_004670.4:c.27+23545T>A | NP_004661.2:n.27+23545T>A |