gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3493111 (NFE)
Genomes Max Group AF
0.3493111 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974349A>G , CM000669.2:g.150974349A>G | GRCh38 |
| NC_000007.13:g.150671437A>G , CM000669.1:g.150671437A>G | GRCh37 |
| NC_000007.12:g.150302370A>G | NCBI36 |
| NG_008916.1:g.8578T>C , LRG_288:g.8578T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.307+362T>C MANE Select | ENSP00000262186.5:n.307+362T>C | |
| ENST00000262186.9:c.307+362T>C | ENSP00000262186.5:n.307+362T>C | |
| ENST00000430723.4:c.130+362T>C | ENSP00000387657.4:n.130+362T>C | |
| ENST00000532957.5:n.530+362T>C | ||
| NM_000238.3:c.307+362T>C , LRG_288t1:c.307+362T>C | NP_000229.1:n.307+362T>C | |
| NM_172056.2:c.307+362T>C , LRG_288t2:c.307+362T>C | NP_742053.1:n.307+362T>C | |
| XM_011516185.1:c.7+21T>C | XP_011514487.1:n.7+21T>C | |
| XM_011516186.1:c.307+362T>C | XP_011514488.1:n.307+362T>C | |
| XM_011516185.2:c.7+21T>C | XP_011514487.1:n.7+21T>C | |
| XM_011516186.3:c.307+362T>C | XP_011514488.1:n.307+362T>C | |
| XM_017012196.1:c.130+362T>C | XP_016867685.1:n.130+362T>C | |
| NM_000238.4:c.307+362T>C MANE Select | NP_000229.1:n.307+362T>C |