gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07943494 (AFR)
Genomes Max Group AF
0.07943494 (AFR)
Exomes Max Group AF
0.00273288 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27208761A>G , CM000677.2:g.27208761A>G | GRCh38 |
| NC_000015.9:g.27453908A>G , CM000677.1:g.27453908A>G | GRCh37 |
| NC_000015.8:g.25036654A>G | NCBI36 |
| NG_032887.1:g.242480A>G | |
| NG_032887.2:g.242581A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615808.5:c.271-118048A>G MANE Select | ENSP00000479113.1:n.271-118048A>G | |
| ENST00000555083.5:c.271-118048A>G | ENSP00000452244.1:n.271-118048A>G | |
| ENST00000615808.4:c.271-118048A>G | ENSP00000479113.1:n.271-118048A>G | |
| NM_001270873.1:c.271-118048A>G | NP_001257802.1:n.271-118048A>G | |
| NM_033223.4:c.271-118048A>G | NP_150092.2:n.271-118048A>G | |
| XM_011521430.1:c.271-118048A>G | XP_011519732.1:n.271-118048A>G | |
| XM_011521430.3:c.271-118048A>G | XP_011519732.1:n.271-118048A>G | |
| NM_033223.5:c.271-118048A>G MANE Select | NP_150092.2:n.271-118048A>G | |
| NM_001270873.2:c.271-118048A>G | NP_001257802.1:n.271-118048A>G |