gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002988 (NFE)
Exomes Max Group AF
0.00003171 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422627A>G , CM000681.2:g.41422627A>G | GRCh38 |
| NC_000019.9:g.41928532A>G , CM000681.1:g.41928532A>G | GRCh37 |
| NC_000019.8:g.46620372A>G | NCBI36 |
| NG_013004.1:g.29839A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.854-2A>G MANE Select | ENSP00000269980.2:n.854-2A>G | |
| ENST00000269980.6:c.854-2A>G | ENSP00000269980.2:n.854-2A>G | |
| ENST00000457836.6:c.788-2A>G | ENSP00000416000.2:n.788-2A>G | |
| ENST00000535632.5:n.483-2A>G | ||
| ENST00000540732.3:c.956-2A>G | ENSP00000443246.1:n.956-2A>G | |
| ENST00000542943.5:c.767-2A>G | ENSP00000440345.1:n.767-2A>G | |
| ENST00000545787.1:n.482-2A>G | ||
| ENST00000595085.5:c.854-2A>G | ENSP00000471150.2:n.854-2A>G | |
| NM_000709.3:c.854-2A>G | NP_000700.1:n.854-2A>G | |
| NM_001164783.1:c.854-5A>G | NP_001158255.1:n.854-5A>G | |
| NM_000709.4:c.854-2A>G MANE Select | NP_000700.1:n.854-2A>G | |
| NM_001164783.2:c.854-5A>G | NP_001158255.1:n.854-5A>G |