gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16993991 (AFR)
Genomes Max Group AF
0.16993991 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.140604489A>C , CM000664.2:g.140604489A>C | GRCh38 |
| NC_000002.11:g.141362058A>C , CM000664.1:g.141362058A>C | GRCh37 |
| NC_000002.10:g.141078528A>C | NCBI36 |
| NG_051023.1:g.1532975T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389484.8:c.6800-2850T>G MANE Select | ENSP00000374135.3:n.6800-2850T>G | |
| ENST00000389484.7:c.6800-2850T>G | ENSP00000374135.3:n.6800-2850T>G | |
| ENST00000618808.4:c.6458-2850T>G | ENSP00000478868.1:n.6458-2850T>G | |
| NM_018557.2:c.6800-2850T>G | NP_061027.2:n.6800-2850T>G | |
| XM_011511352.1:c.6911-2850T>G | XP_011509654.1:n.6911-2850T>G | |
| XM_017004341.1:c.6410-2850T>G | XP_016859830.1:n.6410-2850T>G | |
| XM_017004342.1:c.1652-2850T>G | XP_016859831.1:n.1652-2850T>G | |
| XR_001738778.1:n.8534-2850T>G | ||
| NM_018557.3:c.6800-2850T>G MANE Select | NP_061027.2:n.6800-2850T>G |