gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10659556 (AFR)
Genomes Max Group AF
0.10661598 (AFR)
Exomes Max Group AF
0.03858195 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.26837076T>C , CM000683.2:g.26837076T>C | GRCh38 |
| NC_000021.8:g.28209395T>C , CM000683.1:g.28209395T>C | GRCh37 |
| NC_000021.7:g.27131266T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284984.8:c.*503A>G MANE Select | ENSP00000284984.2:n.*503A>G | |
| ENST00000451462.6:c.*503A>G | ENSP00000403404.2:n.*503A>G | |
| ENST00000517777.6:c.*503A>G | ENSP00000429557.2:n.*503A>G | |
| ENST00000676955.1:c.*503A>G | ENSP00000503982.1:n.*503A>G | |
| ENST00000677958.1:c.*1647A>G | ENSP00000503777.1:n.*1647A>G | |
| ENST00000678221.1:c.*503A>G | ENSP00000503862.1:n.*503A>G | |
| ENST00000679152.1:c.*503A>G | ENSP00000504463.1:n.*503A>G | |
| ENST00000679316.1:n.5048A>G | ||
| ENST00000284984.7:c.*503A>G | ENSP00000284984.2:n.*503A>G | |
| ENST00000464589.1:n.3929A>G | ||
| NM_006988.4:c.*503A>G | NP_008919.3:n.*503A>G | |
| NM_006988.5:c.*503A>G MANE Select | NP_008919.3:n.*503A>G |