ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020681 (AMR)
Exomes Max Group AF
0.00025946 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119968207T>C , CM000663.2:g.119968207T>C | GRCh38 |
| NC_000001.10:g.120510830T>C , CM000663.1:g.120510830T>C | GRCh37 |
| NC_000001.9:g.120312353T>C | NCBI36 |
| NG_008163.1:g.106447A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.1134A>G MANE Select | ENSP00000256646.2:p.Ala378= | |
| ENST00000640021.1:c.354A>G | ENSP00000492223.1:n.354A>G | |
| ENST00000256646.6:c.1134A>G | ENSP00000256646.2:p.Ala378= | |
| ENST00000479412.2:n.1272A>G | ||
| ENST00000579475.7:c.1017A>G | ENSP00000477065.2:p.Ala339= | |
| NM_001200001.1:c.1134A>G | NP_001186930.1:p.Ala378= | |
| NM_024408.3:c.1134A>G | NP_077719.2:p.Ala378= | |
| XM_005270901.2:c.1017A>G | XP_005270958.1:p.Ala339= | |
| XM_011541519.1:c.1122A>G | XP_011539821.1:p.Ala374= | |
| XM_011541520.1:c.1017A>G | XP_011539822.1:p.Ala339= | |
| NM_024408.4:c.1134A>G MANE Select | NP_077719.2:p.Ala378= | |
| NM_001200001.2:c.1134A>G | NP_001186930.1:p.Ala378= |