gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31548036 (AFR)
Genomes Max Group AF
0.31548036 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.8808940T>C , CM000664.2:g.8808940T>C | GRCh38 |
| NC_000002.11:g.8949070T>C , CM000664.1:g.8949070T>C | GRCh37 |
| NC_000002.10:g.8866521T>C | NCBI36 |
| NG_053168.1:g.33700A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000459813.2:c.505-2571A>G | ENSP00000419232.2:n.505-2571A>G | |
| ENST00000685097.1:c.379-2571A>G | ENSP00000510510.1:n.379-2571A>G | |
| ENST00000685274.1:n.661-2571A>G | ||
| ENST00000686179.1:n.677-2571A>G | ||
| ENST00000686906.1:c.505-2571A>G | ENSP00000508907.1:n.505-2571A>G | |
| ENST00000687240.1:n.675-2571A>G | ||
| ENST00000687526.1:n.483-2571A>G | ||
| ENST00000687894.1:c.508-2571A>G | ENSP00000509577.1:n.508-2571A>G | |
| ENST00000687912.1:c.181-2571A>G | ENSP00000508455.1:n.181-2571A>G | |
| ENST00000689114.1:n.675-2571A>G | ||
| ENST00000689369.1:c.505-2571A>G | ENSP00000509856.1:n.505-2571A>G | |
| ENST00000689531.1:c.505-2571A>G | ENSP00000509678.1:n.505-2571A>G | |
| ENST00000689852.1:c.505-2571A>G | ENSP00000510537.1:n.505-2571A>G | |
| ENST00000690607.1:n.676-2571A>G | ||
| ENST00000691030.1:c.508-2571A>G | ENSP00000510148.1:n.508-2571A>G | |
| ENST00000692419.1:c.505-2571A>G | ENSP00000508523.1:n.505-2571A>G | |
| ENST00000692889.1:n.675-2571A>G | ||
| ENST00000693249.1:n.670-2571A>G | ||
| ENST00000693366.1:n.1418-2571A>G | ||
| ENST00000693394.1:c.505-2571A>G | ENSP00000509014.1:n.505-2571A>G | |
| ENST00000693432.1:c.505-2571A>G | ENSP00000510486.1:n.505-2571A>G | |
| ENST00000256707.8:c.505-2571A>G MANE Select | ENSP00000256707.4:n.505-2571A>G | |
| ENST00000569008.2:c.505-2571A>G | ENSP00000491461.1:n.505-2571A>G | |
| ENST00000256707.7:c.505-2571A>G | ENSP00000256707.3:n.505-2571A>G | |
| ENST00000319688.5:c.508-2571A>G | ENSP00000319947.5:n.508-2571A>G | |
| ENST00000473731.5:c.505-2571A>G | ENSP00000418974.1:n.505-2571A>G | |
| ENST00000488729.5:c.*565-2571A>G | ENSP00000417390.1:n.*565-2571A>G | |
| ENST00000489024.5:c.508-2571A>G | ENSP00000419964.1:n.508-2571A>G | |
| NM_020738.2:c.505-2571A>G | NP_065789.1:n.505-2571A>G | |
| NM_001348729.1:c.508-2571A>G | NP_001335658.1:n.508-2571A>G | |
| NM_001348731.1:c.508-2571A>G | NP_001335660.1:n.508-2571A>G | |
| NM_001348732.1:c.505-2571A>G | NP_001335661.1:n.505-2571A>G | |
| NM_001348734.1:c.508-2571A>G | NP_001335663.1:n.508-2571A>G | |
| NM_001348735.1:c.505-2571A>G | NP_001335664.1:n.505-2571A>G | |
| NM_001348736.1:c.379-2571A>G | NP_001335665.1:n.379-2571A>G | |
| NM_001348738.1:c.505-2571A>G | NP_001335667.1:n.505-2571A>G | |
| NM_001348739.1:c.508-2571A>G | NP_001335668.1:n.508-2571A>G | |
| NM_001348740.1:c.508-2571A>G | NP_001335669.1:n.508-2571A>G | |
| NM_001348741.1:c.505-2571A>G | NP_001335670.1:n.505-2571A>G | |
| NM_001348742.1:c.505-2571A>G | NP_001335671.1:n.505-2571A>G | |
| NM_001348743.1:c.505-2571A>G | NP_001335672.1:n.505-2571A>G | |
| NM_001348745.1:c.508-2571A>G | NP_001335674.1:n.508-2571A>G | |
| NM_020738.3:c.505-2571A>G | NP_065789.1:n.505-2571A>G | |
| NR_145964.1:n.704-2571A>G | ||
| NR_145965.1:n.701-2571A>G | ||
| NM_001348729.2:c.508-2571A>G | NP_001335658.1:n.508-2571A>G | |
| NM_001348731.2:c.508-2571A>G | NP_001335660.1:n.508-2571A>G | |
| NM_001348732.2:c.505-2571A>G | NP_001335661.1:n.505-2571A>G | |
| NM_001348734.2:c.508-2571A>G | NP_001335663.1:n.508-2571A>G | |
| NM_001348735.2:c.505-2571A>G | NP_001335664.1:n.505-2571A>G | |
| NM_001348736.2:c.379-2571A>G | NP_001335665.1:n.379-2571A>G | |
| NM_001348738.2:c.505-2571A>G | NP_001335667.1:n.505-2571A>G | |
| NM_001348739.2:c.508-2571A>G | NP_001335668.1:n.508-2571A>G | |
| NM_001348740.2:c.508-2571A>G | NP_001335669.1:n.508-2571A>G | |
| NM_001348741.2:c.505-2571A>G | NP_001335670.1:n.505-2571A>G | |
| NM_001348742.2:c.505-2571A>G | NP_001335671.1:n.505-2571A>G | |
| NM_001348743.2:c.505-2571A>G | NP_001335672.1:n.505-2571A>G | |
| NM_001348745.2:c.508-2571A>G | NP_001335674.1:n.508-2571A>G | |
| NM_020738.4:c.505-2571A>G MANE Select | NP_065789.1:n.505-2571A>G | |
| NR_145964.2:n.678-2571A>G | ||
| NR_145965.2:n.675-2571A>G |