gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49254837 (AFR)
Genomes Max Group AF
0.49135194 (AFR)
Exomes Max Group AF
0.48973754 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43769364T>C , CM000681.2:g.43769364T>C | GRCh38 |
| NC_000019.9:g.44273516T>C , CM000681.1:g.44273516T>C | GRCh37 |
| NC_000019.8:g.48965356T>C | NCBI36 |
| NG_052672.1:g.17776A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601549.2:n.749A>G | ||
| ENST00000648053.1:n.481+78A>G | ||
| ENST00000648319.1:c.1049+78A>G MANE Select | ENSP00000496939.1:n.1049+78A>G | |
| ENST00000262888.7:c.1049+78A>G | ENSP00000262888.3:n.1049+78A>G | |
| ENST00000598836.1:c.244A>G | ||
| ENST00000599720.5:c.*319+78A>G | ENSP00000472513.1:n.*319+78A>G | |
| ENST00000600408.1:c.416A>G | ENSP00000472510.1:n.416A>G | |
| ENST00000601549.1:n.436A>G | ||
| ENST00000615047.4:c.653+78A>G | ENSP00000485014.1:n.653+78A>G | |
| NM_002250.2:c.1049+78A>G | NP_002241.1:n.1049+78A>G | |
| XM_005258882.2:c.953+78A>G | XP_005258939.1:n.953+78A>G | |
| XM_005258883.2:c.860+78A>G | XP_005258940.1:n.860+78A>G | |
| XR_935823.1:n.2295+78A>G | ||
| XR_002958313.1:n.2441+78A>G | ||
| NM_002250.3:c.1049+78A>G MANE Select | NP_002241.1:n.1049+78A>G |