gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30397023 (AFR)
Genomes Max Group AF
0.30567258 (AFR)
Exomes Max Group AF
0.2819095 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124748043A>C , CM000673.2:g.124748043A>C | GRCh38 |
| NC_000011.9:g.124617939A>C , CM000673.1:g.124617939A>C | GRCh37 |
| NC_000011.8:g.124123149A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326621.10:c.851+347T>G MANE Select | ENSP00000318684.5:n.851+347T>G | |
| ENST00000326621.9:c.851+347T>G | ENSP00000318684.5:n.851+347T>G | |
| NM_014312.3:c.851+347T>G | NP_055127.2:n.851+347T>G | |
| XM_011542727.1:c.1211+347T>G | XP_011541029.1:n.1211+347T>G | |
| XM_011542728.1:c.845+347T>G | XP_011541030.1:n.845+347T>G | |
| XR_428973.2:n.1642+347T>G | ||
| NM_014312.4:c.851+347T>G | NP_055127.2:n.851+347T>G | |
| NM_014312.5:c.851+347T>G MANE Select | NP_055127.2:n.851+347T>G |