gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88818714 (AFR)
Genomes Max Group AF
0.88271553 (AFR)
Exomes Max Group AF
0.88973491 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114790605T>C , CM000671.2:g.114790605T>C | GRCh38 |
| NC_000009.11:g.117552885T>C , CM000671.1:g.117552885T>C | GRCh37 |
| NC_000009.10:g.116592706T>C | NCBI36 |
| NG_011488.2:g.20524A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374045.5:c.603A>G MANE Select | ENSP00000363157.3:p.Val201= | |
| ENST00000374044.1:c.372A>G | ENSP00000363156.1:p.Val124= | |
| ENST00000374045.4:c.603A>G | ENSP00000363157.3:p.Val201= | |
| NM_001204344.1:c.426A>G | NP_001191273.1:p.Val142= | |
| NM_005118.3:c.603A>G | NP_005109.2:p.Val201= | |
| NM_005118.4:c.603A>G MANE Select | NP_005109.2:p.Val201= |