gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010603 (NFE)
Genomes Max Group AF
0.00007908 (NFE)
Exomes Max Group AF
0.00010431 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96321951C>A , CM000669.2:g.96321951C>A | GRCh38 |
| NC_000007.13:g.95951263C>A , CM000669.1:g.95951263C>A | GRCh37 |
| NC_000007.12:g.95789199C>A | NCBI36 |
| NG_012247.1:g.5197G>T | |
| NG_012247.2:g.5197G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.6G>T MANE Select | ENSP00000265631.6:p.Ala2= | |
| ENST00000265631.9:c.6G>T | ENSP00000265631.5:p.Ala2= | |
| ENST00000416240.6:c.6G>T | ENSP00000400101.2:p.Ala2= | |
| ENST00000472162.2:c.6G>T | ENSP00000473505.1:p.Ala2= | |
| NM_001160210.1:c.6G>T | NP_001153682.1:p.Ala2= | |
| NM_014251.2:c.6G>T | NP_055066.1:p.Ala2= | |
| NR_027662.1:n.197G>T | ||
| XM_011515727.3:c.-116G>T | XP_011514029.1:n.-116G>T | |
| XM_017011664.2:c.-753G>T | XP_016867153.1:n.-753G>T | |
| XM_017011665.1:c.-637G>T | XP_016867154.1:n.-637G>T | |
| XR_001744525.2:n.177G>T | ||
| XR_002956405.1:n.165G>T | ||
| NM_014251.3:c.6G>T MANE Select | NP_055066.1:p.Ala2= | |
| NR_027662.2:n.148G>T | ||
| NM_001160210.2:c.6G>T | NP_001153682.1:p.Ala2= |