gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27124165 (NFE)
Genomes Max Group AF
0.2712496 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151101614A>G , CM000668.2:g.151101614A>G | GRCh38 |
| NC_000006.11:g.151422750A>G , CM000668.1:g.151422750A>G | GRCh37 |
| NC_000006.10:g.151464443A>G | NCBI36 |
| NG_029185.1:g.240936A>G | |
| NG_029185.2:g.240936A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367321.8:c.*120A>G MANE Select | ENSP00000356290.3:n.*120A>G | |
| ENST00000367321.7:c.*120A>G | ENSP00000356290.3:n.*120A>G | |
| ENST00000611279.4:c.*120A>G | ENSP00000478253.1:n.*120A>G | |
| ENST00000618312.4:c.*120A>G | ENSP00000479539.1:n.*120A>G | |
| NM_001242767.1:c.*120A>G | NP_001229696.1:n.*120A>G | |
| NM_001242768.1:c.*120A>G | NP_001229697.1:n.*120A>G | |
| NM_015440.4:c.*120A>G | NP_056255.2:n.*120A>G | |
| XR_943112.1:n.509-13234T>C | ||
| NM_001350486.1:c.*120A>G | NP_001337415.1:n.*120A>G | |
| NM_001350487.1:c.*120A>G | NP_001337416.1:n.*120A>G | |
| NM_001350490.1:c.*120A>G | NP_001337419.1:n.*120A>G | |
| NM_001350492.1:c.*120A>G | NP_001337421.1:n.*120A>G | |
| NM_001350493.1:c.*120A>G | NP_001337422.1:n.*120A>G | |
| NR_146719.1:n.3304A>G | ||
| NR_146720.1:n.4125A>G | ||
| XM_024446395.1:c.*120A>G | XP_024302163.1:n.*120A>G | |
| XR_002956274.1:n.3325A>G | ||
| NM_001242767.2:c.*120A>G | NP_001229696.1:n.*120A>G | |
| NM_001242768.2:c.*120A>G | NP_001229697.1:n.*120A>G | |
| NM_001350487.2:c.*120A>G | NP_001337416.1:n.*120A>G | |
| NM_001350492.2:c.*120A>G | NP_001337421.1:n.*120A>G | |
| NM_015440.5:c.*120A>G MANE Select | NP_056255.2:n.*120A>G | |
| NR_146719.2:n.3281A>G | ||
| NR_146720.2:n.4086A>G |