gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73595995 (NFE)
Genomes Max Group AF
0.73595995 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54179589T>C , CM000663.2:g.54179589T>C | GRCh38 |
| NC_000001.10:g.54645262T>C , CM000663.1:g.54645262T>C | GRCh37 |
| NC_000001.9:g.54417850T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534324.6:c.541-237A>G MANE Select | ENSP00000434343.1:n.541-237A>G | |
| ENST00000287899.13:c.540+4572A>G | ENSP00000287899.8:n.540+4572A>G | |
| ENST00000637610.1:c.303+4572A>G | ENSP00000490901.1:n.303+4572A>G | |
| ENST00000287899.12:c.540+4572A>G | ENSP00000287899.8:n.540+4572A>G | |
| ENST00000311841.7:c.*178+4572A>G | ENSP00000457656.1:n.*178+4572A>G | |
| ENST00000420054.5:c.*535-237A>G | ENSP00000403021.1:n.*535-237A>G | |
| ENST00000421415.5:c.*179-237A>G | ENSP00000394709.1:n.*179-237A>G | |
| ENST00000490863.5:n.2973-237A>G | ||
| ENST00000493530.2:c.283-237A>G | ENSP00000434606.1:n.283-237A>G | |
| ENST00000528287.5:c.*179-237A>G | ENSP00000431428.1:n.*179-237A>G | |
| ENST00000534324.5:c.541-237A>G | ENSP00000434343.1:n.541-237A>G | |
| NM_001031672.2:c.541-237A>G | NP_001026842.2:n.541-237A>G | |
| NM_001031672.3:c.541-237A>G | NP_001026842.2:n.541-237A>G | |
| NM_001353353.1:c.304-237A>G | NP_001340282.1:n.304-237A>G | |
| NM_001353354.1:c.97-237A>G | NP_001340283.1:n.97-237A>G | |
| NM_001031672.4:c.541-237A>G MANE Select | NP_001026842.2:n.541-237A>G | |
| NM_001353353.2:c.304-237A>G | NP_001340282.1:n.304-237A>G | |
| NM_001353354.2:c.97-237A>G | NP_001340283.1:n.97-237A>G |