gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50032463 (EAS)
Genomes Max Group AF
0.50032463 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31660688C>G , CM000683.2:g.31660688C>G | GRCh38 |
| NC_000021.8:g.33033001C>G , CM000683.1:g.33033001C>G | GRCh37 |
| NC_000021.7:g.31954872C>G | NCBI36 |
| NG_008689.1:g.6067C>G , LRG_652:g.6067C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.72+847C>G MANE Select | ENSP00000270142.7:n.72+847C>G | |
| ENST00000270142.10:c.72+847C>G | ENSP00000270142.6:n.72+847C>G | |
| ENST00000389995.4:c.15+904C>G | ENSP00000374645.4:n.15+904C>G | |
| ENST00000470944.1:n.980C>G | ||
| ENST00000476106.5:n.149+847C>G | ||
| NM_000454.4:c.72+847C>G , LRG_652t1:c.72+847C>G | NP_000445.1:n.72+847C>G | |
| NM_000454.5:c.72+847C>G MANE Select | NP_000445.1:n.72+847C>G |