gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05755947 (AFR)
Genomes Max Group AF
0.05755947 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.98733736T>G , CM000675.2:g.98733736T>G | GRCh38 |
| NC_000013.10:g.99385990T>G , CM000675.1:g.99385990T>G | GRCh37 |
| NC_000013.9:g.98183991T>G | NCBI36 |
| NG_017032.1:g.23940A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376503.10:c.5-6877A>C MANE Select | ENSP00000365686.4:n.5-6877A>C | |
| ENST00000376503.9:c.5-6877A>C | ENSP00000365686.4:n.5-6877A>C | |
| ENST00000618992.4:c.5-6877A>C | ENSP00000478051.1:n.5-6877A>C | |
| NM_005073.3:c.5-6877A>C | NP_005064.1:n.5-6877A>C | |
| NM_005073.4:c.5-6877A>C MANE Select | NP_005064.1:n.5-6877A>C |