gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16633565 (AMR)
Genomes Max Group AF
0.16633565 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.73570410G>C , CM000665.2:g.73570410G>C | GRCh38 |
| NC_000003.11:g.73619561G>C , CM000665.1:g.73619561G>C | GRCh37 |
| NC_000003.10:g.73702251G>C | NCBI36 |
| NG_047128.1:g.59512C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263666.9:c.918+31944C>G MANE Select | ENSP00000263666.4:n.918+31944C>G | |
| ENST00000263666.8:c.918+31944C>G | ENSP00000263666.4:n.918+31944C>G | |
| ENST00000308537.4:c.918+31944C>G | ENSP00000308831.4:n.918+31944C>G | |
| NM_015009.2:c.918+31944C>G | NP_055824.1:n.918+31944C>G | |
| XM_017005942.2:c.831+31944C>G | XP_016861431.1:n.831+31944C>G | |
| NM_015009.3:c.918+31944C>G MANE Select | NP_055824.1:n.918+31944C>G |