gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42766773 (AFR)
Genomes Max Group AF
0.42765486 (AFR)
Exomes Max Group AF
0.24626806 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43984457A>G , CM000683.2:g.43984457A>G | GRCh38 |
| NC_000021.8:g.45404338A>G , CM000683.1:g.45404338A>G | GRCh37 |
| NC_000021.7:g.44228766A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291572.13:c.*2065A>G MANE Select | ENSP00000291572.8:n.*2065A>G | |
| ENST00000291572.12:c.*2065A>G | ENSP00000291572.8:n.*2065A>G | |
| ENST00000327505.6:c.*2065A>G | ENSP00000332989.2:n.*2065A>G | |
| ENST00000398058.5:c.*2065A>G | ENSP00000381135.1:n.*2065A>G | |
| ENST00000398061.5:c.*2065A>G | ENSP00000381138.1:n.*2065A>G | |
| ENST00000398063.6:c.*2065A>G | ENSP00000381140.2:n.*2065A>G | |
| NM_001037553.1:c.*2065A>G | NP_001032642.1:n.*2065A>G | |
| NM_020132.4:c.*2065A>G | NP_064517.1:n.*2065A>G | |
| XM_005261160.3:c.*2065A>G | XP_005261217.1:n.*2065A>G | |
| XM_006724029.2:c.*2065A>G | XP_006724092.1:n.*2065A>G | |
| XM_006724030.2:c.*2065A>G | XP_006724093.1:n.*2065A>G | |
| XM_006724031.2:c.*2065A>G | XP_006724094.1:n.*2065A>G | |
| XM_011529660.1:c.*2065A>G | XP_011527962.1:n.*2065A>G | |
| XM_011529661.1:c.*2065A>G | XP_011527963.1:n.*2065A>G | |
| XM_011529662.1:c.*2065A>G | XP_011527964.1:n.*2065A>G | |
| XM_011529663.1:c.*2065A>G | XP_011527965.1:n.*2065A>G | |
| XM_011529664.1:c.*2065A>G | XP_011527966.1:n.*2065A>G | |
| XM_011529665.1:c.*2065A>G | XP_011527967.1:n.*2065A>G | |
| XM_011529666.1:c.*2065A>G | XP_011527968.1:n.*2065A>G | |
| XM_005261160.4:c.*2065A>G | XP_005261217.1:n.*2065A>G | |
| XM_006724029.3:c.*2065A>G | XP_006724092.1:n.*2065A>G | |
| XM_006724030.3:c.*2065A>G | XP_006724093.1:n.*2065A>G | |
| XM_006724031.3:c.*2065A>G | XP_006724094.1:n.*2065A>G | |
| XM_011529660.2:c.*2065A>G | XP_011527962.1:n.*2065A>G | |
| XM_011529661.2:c.*2065A>G | XP_011527963.1:n.*2065A>G | |
| XM_011529662.2:c.*2065A>G | XP_011527964.1:n.*2065A>G | |
| XM_011529663.2:c.*2065A>G | XP_011527965.1:n.*2065A>G | |
| XM_011529664.2:c.*2065A>G | XP_011527966.1:n.*2065A>G | |
| XM_011529665.2:c.*2065A>G | XP_011527967.1:n.*2065A>G | |
| XM_017028408.1:c.*2065A>G | XP_016883897.1:n.*2065A>G | |
| XM_017028409.1:c.*2065A>G | XP_016883898.1:n.*2065A>G | |
| XM_017028410.1:c.*2065A>G | XP_016883899.1:n.*2065A>G | |
| XM_017028411.1:c.*2065A>G | XP_016883900.1:n.*2065A>G | |
| XM_017028412.1:c.*2065A>G | XP_016883901.1:n.*2065A>G | |
| XM_017028413.1:c.*2065A>G | XP_016883902.1:n.*2065A>G | |
| NM_020132.5:c.*2065A>G MANE Select | NP_064517.1:n.*2065A>G | |
| NM_001037553.2:c.*2065A>G | NP_001032642.1:n.*2065A>G | |
| NM_001369878.1:c.*2065A>G | NP_001356807.1:n.*2065A>G | |
| NM_001369880.1:c.*2065A>G | NP_001356809.1:n.*2065A>G | |
| NM_001369881.1:c.*2065A>G | NP_001356810.1:n.*2065A>G |