gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776984A>G , CM000673.2:g.2776984A>G | GRCh38 |
| NC_000011.9:g.2798214A>G , CM000673.1:g.2798214A>G | GRCh37 |
| NC_000011.8:g.2754790A>G | NCBI36 |
| NG_008935.1:g.336994A>G , LRG_287:g.336994A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1329-2A>G | ENSP00000434560.2:n.1329-2A>G | |
| ENST00000646564.2:c.1146-2A>G | ENSP00000495806.2:n.1146-2A>G | |
| ENST00000155840.12:c.1686-2A>G MANE Select | ENSP00000155840.2:n.1686-2A>G | |
| ENST00000335475.6:c.1305-2A>G | ENSP00000334497.5:n.1305-2A>G | |
| ENST00000646564.1:c.792-2A>G | ENSP00000495806.1:n.792-2A>G | |
| ENST00000155840.9:c.1686-2A>G | ENSP00000155840.2:n.1686-2A>G | |
| ENST00000335475.5:c.1305-2A>G | ENSP00000334497.5:n.1305-2A>G | |
| NM_000218.2:c.1686-2A>G , LRG_287t1:c.1686-2A>G | NP_000209.2:n.1686-2A>G | |
| NM_181798.1:c.1305-2A>G , LRG_287t2:c.1305-2A>G | NP_861463.1:n.1305-2A>G | |
| NM_000218.3:c.1686-2A>G MANE Select | NP_000209.2:n.1686-2A>G |