gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32942601 (NFE)
Genomes Max Group AF
0.32942601 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88143743T>C , CM000673.2:g.88143743T>C | GRCh38 |
| NC_000011.9:g.87876911T>C , CM000673.1:g.87876911T>C | GRCh37 |
| NC_000011.8:g.87516559T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243662.11:c.483+5932A>G MANE Select | ENSP00000243662.5:n.483+5932A>G | |
| ENST00000243662.10:c.483+5932A>G | ENSP00000243662.5:n.483+5932A>G | |
| ENST00000526372.1:c.478+5932A>G | ||
| ENST00000531138.1:c.252-29603A>G | ||
| NM_022337.2:c.483+5932A>G | NP_071732.1:n.483+5932A>G | |
| XM_017017455.2:c.483+5932A>G | XP_016872944.1:n.483+5932A>G | |
| XM_017017456.2:c.483+5932A>G | XP_016872945.1:n.483+5932A>G | |
| NM_022337.3:c.483+5932A>G MANE Select | NP_071732.1:n.483+5932A>G |