gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001299 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
Exomes Max Group AF
0.00001214 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171199445C>G , CM000663.2:g.171199445C>G | GRCh38 |
| NC_000001.10:g.171168584C>G , CM000663.1:g.171168584C>G | GRCh37 |
| NC_000001.9:g.169435208C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209929.10:c.584C>G MANE Select | ENSP00000209929.8:p.Ser195Ter | |
| ENST00000209929.9:c.584C>G | ENSP00000209929.8:p.Ser195Ter | |
| ENST00000489354.3:n.349C>G | ||
| ENST00000529935.5:c.412+2634C>G | ENSP00000487002.1:n.412+2634C>G | |
| NM_001301347.1:c.-34+2634C>G | NP_001288276.1:n.-34+2634C>G | |
| NM_001460.4:c.584C>G | NP_001451.2:p.Ser195Ter | |
| XR_426768.2:n.701C>G | ||
| XR_921761.1:n.701C>G | ||
| XR_922278.1:n.508-31257G>C | ||
| NM_001365900.1:c.389C>G | NP_001352829.1:p.Ser130Ter | |
| NR_158622.1:n.604C>G | ||
| XR_001737072.2:n.651C>G | ||
| XR_001738291.2:n.1307-31257G>C | ||
| XR_921761.3:n.651C>G | ||
| XR_922278.3:n.1307-31257G>C | ||
| NM_001460.5:c.584C>G MANE Select | NP_001451.2:p.Ser195Ter | |
| NR_160266.1:n.512C>G | ||
| NM_001301347.2:c.-34+2634C>G | NP_001288276.1:n.-34+2634C>G |