ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000556 (AMR)
Exomes Max Group AF
0.00000748 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113276716A>G , CM000671.2:g.113276716A>G | GRCh38 |
| NC_000009.11:g.116038996A>G , CM000671.1:g.116038996A>G | GRCh37 |
| NC_000009.10:g.115078817A>G | NCBI36 |
| NG_034225.1:g.6083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374198.5:c.196A>G MANE Select | ENSP00000363313.4:p.Ile66Val | |
| ENST00000374199.9:c.199A>G | ENSP00000363315.4:p.Ile67Val | |
| ENST00000374198.4:c.199A>G | ENSP00000363313.3:p.Ile67Val | |
| ENST00000374199.8:c.196A>G | ENSP00000363315.3:p.Ile66Val | |
| NM_001244926.1:c.196A>G | NP_001231855.1:p.Ile66Val | |
| NM_004697.4:c.199A>G | NP_004688.2:p.Ile67Val | |
| XM_011519181.1:c.199A>G | XP_011517483.1:p.Ile67Val | |
| NM_001322266.1:c.-570A>G | NP_001309195.1:n.-570A>G | |
| NM_001322267.1:c.-570A>G | NP_001309196.1:n.-570A>G | |
| NR_136265.1:n.309A>G | ||
| NR_136266.1:n.306A>G | ||
| NM_001244926.2:c.196A>G MANE Select | NP_001231855.1:p.Ile66Val | |
| NM_001322266.2:c.-570A>G | NP_001309195.1:n.-570A>G | |
| NM_001322267.2:c.-570A>G | NP_001309196.1:n.-570A>G | |
| NM_004697.5:c.199A>G | NP_004688.2:p.Ile67Val | |
| NR_136265.2:n.285A>G | ||
| NR_136266.2:n.282A>G |