gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002257 (AMR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001782 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129452996A>G , CM000668.2:g.129452996A>G | GRCh38 |
| NC_000006.11:g.129774141A>G , CM000668.1:g.129774141A>G | GRCh37 |
| NC_000006.10:g.129815834A>G | NCBI36 |
| NG_008678.1:g.574856A>G , LRG_409:g.574856A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.6438A>G | ENSP00000481744.2:p.Val2146= | |
| ENST00000618192.5:c.6702A>G | ENSP00000480802.2:p.Val2234= | |
| ENST00000684985.1:n.69A>G | ||
| ENST00000421865.3:c.6438A>G MANE Select | ENSP00000400365.2:p.Val2146= | |
| ENST00000421865.2:c.6438A>G | ENSP00000400365.2:p.Val2146= | |
| ENST00000617695.4:c.6438A>G | ENSP00000481744.1:p.Val2146= | |
| ENST00000618192.4:c.6435A>G | ENSP00000480802.1:p.Val2145= | |
| NM_000426.3:c.6438A>G , LRG_409t1:c.6438A>G | NP_000417.2:p.Val2146= | |
| NM_001079823.1:c.6438A>G | NP_001073291.1:p.Val2146= | |
| XM_005266981.2:c.6702A>G | XP_005267038.1:p.Val2234= | |
| XM_005266982.2:c.6702A>G | XP_005267039.1:p.Val2234= | |
| XM_011535820.1:c.6696A>G | XP_011534122.1:p.Val2232= | |
| XM_005266981.3:c.6702A>G | XP_005267038.1:p.Val2234= | |
| XM_005266982.3:c.6702A>G | XP_005267039.1:p.Val2234= | |
| XM_011535820.2:c.6696A>G | XP_011534122.1:p.Val2232= | |
| XM_017010851.2:c.6708A>G | XP_016866340.1:p.Val2236= | |
| XM_017010852.1:c.4833A>G | XP_016866341.1:p.Val1611= | |
| NM_000426.4:c.6438A>G MANE Select | NP_000417.3:p.Val2146= | |
| NM_001079823.2:c.6438A>G | NP_001073291.2:p.Val2146= |