gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007896 (AFR)
Genomes Max Group AF
0.00007896 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.134671718G>C , CM000664.2:g.134671718G>C | GRCh38 |
| NC_000002.11:g.135429288G>C , CM000664.1:g.135429288G>C | GRCh37 |
| NC_000002.10:g.135145758G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281924.6:c.322+41482C>G MANE Select | ENSP00000281924.6:n.322+41482C>G | |
| NM_030923.4:c.322+41482C>G | NP_112185.1:n.322+41482C>G | |
| XM_011511949.1:c.142+41482C>G | XP_011510251.1:n.142+41482C>G | |
| XM_011511950.1:c.-12+41482C>G | XP_011510252.1:n.-12+41482C>G | |
| XM_011511950.2:c.-12+41482C>G | XP_011510252.1:n.-12+41482C>G | |
| XM_017005060.2:c.322+41482C>G | XP_016860549.1:n.322+41482C>G | |
| XM_017005061.1:c.-12+41482C>G | XP_016860550.1:n.-12+41482C>G | |
| XM_017005062.1:c.322+41482C>G | XP_016860551.1:n.322+41482C>G | |
| NM_030923.5:c.322+41482C>G MANE Select | NP_112185.1:n.322+41482C>G |