gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81122917T>A , CM000678.2:g.81122917T>A | GRCh38 |
| NC_000016.9:g.81156522T>A , CM000678.1:g.81156522T>A | GRCh37 |
| NC_000016.8:g.79714023T>A | NCBI36 |
| NG_033236.1:g.102455A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525539.5:c.6483+734A>T | ENSP00000434417.1:n.6483+734A>T | |
| ENST00000533478.5:c.4428+734A>T | ENSP00000434644.1:n.4428+734A>T | |
| ENST00000534142.5:n.872+734A>T | ||
| ENST00000614230.4:c.6481+734A>T | ENSP00000483832.1:n.6481+734A>T | |
| NM_001278425.1:c.4429+734A>T | NP_001265354.1:n.4429+734A>T | |
| NM_052892.3:c.6484+734A>T | NP_443124.3:n.6484+734A>T | |
| NR_126532.1:n.6483+734A>T | ||
| NM_001278425.2:c.4429+734A>T | NP_001265354.1:n.4429+734A>T | |
| NM_052892.4:c.6484+734A>T | NP_443124.3:n.6484+734A>T | |
| NR_126532.2:n.6507+734A>T |