gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44203409 (AMR)
Genomes Max Group AF
0.44203409 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.131515880T>C , CM000669.2:g.131515880T>C | GRCh38 |
| NC_000007.13:g.131200639T>C , CM000669.1:g.131200639T>C | GRCh37 |
| NC_000007.12:g.130851179T>C | NCBI36 |
| NG_042104.1:g.45738A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378555.8:c.101-4447A>G MANE Select | ENSP00000367817.3:n.101-4447A>G | |
| ENST00000322985.9:c.101-4447A>G | ENSP00000319782.9:n.101-4447A>G | |
| ENST00000378555.7:c.101-4447A>G | ENSP00000367817.3:n.101-4447A>G | |
| ENST00000446198.5:c.101-4447A>G | ENSP00000390152.1:n.101-4447A>G | |
| ENST00000465001.1:n.292-4447A>G | ||
| NM_001018111.2:c.101-4447A>G | NP_001018121.1:n.101-4447A>G | |
| NM_005397.3:c.101-4447A>G | NP_005388.2:n.101-4447A>G | |
| NM_001018111.3:c.101-4447A>G MANE Select | NP_001018121.1:n.101-4447A>G | |
| NM_005397.4:c.101-4447A>G | NP_005388.2:n.101-4447A>G |