gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000334 (NFE)
Exomes Max Group AF
0.00000269 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204549714C>G , CM000663.2:g.204549714C>G | GRCh38 |
| NC_000001.10:g.204518842C>G , CM000663.1:g.204518842C>G | GRCh37 |
| NC_000001.9:g.202785465C>G | NCBI36 |
| NG_029367.1:g.38336C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367182.8:c.*32C>G MANE Select | ENSP00000356150.3:n.*32C>G | |
| ENST00000367182.7:c.*32C>G | ENSP00000356150.3:n.*32C>G | |
| ENST00000367183.7:c.*32C>G | ENSP00000356151.3:n.*32C>G | |
| ENST00000391947.6:c.*1014C>G | ENSP00000375811.2:n.*1014C>G | |
| ENST00000454264.6:c.*32C>G | ENSP00000396840.2:n.*32C>G | |
| ENST00000463049.5:n.1615C>G | ||
| ENST00000612738.4:c.*32C>G | ENSP00000478080.1:n.*32C>G | |
| ENST00000614459.4:c.*32C>G | ENSP00000482388.1:n.*32C>G | |
| ENST00000616250.4:c.*675C>G | ENSP00000478581.1:n.*675C>G | |
| ENST00000621032.4:c.*1014C>G | ENSP00000482479.1:n.*1014C>G | |
| NM_001204171.1:c.*32C>G | NP_001191100.1:n.*32C>G | |
| NM_001204172.1:c.*32C>G | NP_001191101.1:n.*32C>G | |
| NM_001278516.1:c.*1014C>G | NP_001265445.1:n.*1014C>G | |
| NM_001278517.1:c.*32C>G | NP_001265446.1:n.*32C>G | |
| NM_001278518.1:c.*675C>G | NP_001265447.1:n.*675C>G | |
| NM_001278519.1:c.*32C>G | NP_001265448.1:n.*32C>G | |
| NM_002393.4:c.*32C>G | NP_002384.2:n.*32C>G | |
| XM_006711328.1:c.*32C>G | XP_006711391.1:n.*32C>G | |
| XM_011509565.1:c.953+552C>G | XP_011507867.1:n.953+552C>G | |
| XM_017001311.1:c.*32C>G | XP_016856800.1:n.*32C>G | |
| XM_017001312.1:c.*32C>G | XP_016856801.1:n.*32C>G | |
| XM_017001313.1:c.*32C>G | XP_016856802.1:n.*32C>G | |
| XM_024447114.1:c.*32C>G | XP_024302882.1:n.*32C>G | |
| XM_024447115.1:c.*32C>G | XP_024302883.1:n.*32C>G | |
| XR_001737179.1:n.1641C>G | ||
| XR_001737180.2:n.1626C>G | ||
| XR_001737181.1:n.1602C>G | ||
| XR_001737183.1:n.1628C>G | ||
| XR_002956626.1:n.1587C>G | ||
| NM_002393.5:c.*32C>G MANE Select | NP_002384.2:n.*32C>G | |
| NM_001204171.2:c.*32C>G | NP_001191100.1:n.*32C>G | |
| NM_001204172.2:c.*32C>G | NP_001191101.1:n.*32C>G | |
| NM_001278516.2:c.*1014C>G | NP_001265445.1:n.*1014C>G | |
| NM_001278517.2:c.*32C>G | NP_001265446.1:n.*32C>G | |
| NM_001278518.2:c.*675C>G | NP_001265447.1:n.*675C>G | |
| NM_001278519.2:c.*32C>G | NP_001265448.1:n.*32C>G |