gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65168738 (NFE)
Genomes Max Group AF
0.65168738 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35315105A>G , CM000684.2:g.35315105A>G | GRCh38 |
| NC_000022.10:g.35711098A>G , CM000684.1:g.35711098A>G | GRCh37 |
| NC_000022.9:g.34041098A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449058.7:c.53-2772A>G MANE Select | ENSP00000394466.2:n.53-2772A>G | |
| ENST00000382034.9:c.53-2772A>G | ENSP00000371465.6:n.53-2772A>G | |
| ENST00000395736.7:c.53-2772A>G | ENSP00000379085.3:n.53-2772A>G | |
| ENST00000404284.6:c.53-2772A>G | ENSP00000385906.2:n.53-2772A>G | |
| ENST00000411850.5:c.53-2772A>G | ENSP00000413697.1:n.53-2772A>G | |
| ENST00000424387.5:c.53-6854A>G | ENSP00000397492.1:n.53-6854A>G | |
| ENST00000425375.5:c.53-2772A>G | ENSP00000394924.1:n.53-2772A>G | |
| ENST00000439512.5:c.53-2772A>G | ENSP00000394944.1:n.53-2772A>G | |
| ENST00000443206.2:c.-47-2772A>G | ENSP00000389789.1:n.-47-2772A>G | |
| ENST00000447733.5:c.-47-2772A>G | ENSP00000398876.1:n.-47-2772A>G | |
| ENST00000449058.6:c.53-2772A>G | ENSP00000394466.2:n.53-2772A>G | |
| ENST00000449508.1:c.53-2772A>G | ENSP00000390429.1:n.53-2772A>G | |
| ENST00000456128.5:c.53-2772A>G | ENSP00000393714.1:n.53-2772A>G | |
| ENST00000465529.1:n.116-2772A>G | ||
| ENST00000487670.1:n.111-2772A>G | ||
| ENST00000608674.5:c.-47-2772A>G | ENSP00000477471.1:n.-47-2772A>G | |
| ENST00000608749.5:c.-47-2772A>G | ENSP00000476698.1:n.-47-2772A>G | |
| NM_001135729.1:c.-47-2772A>G | NP_001129201.1:n.-47-2772A>G | |
| NM_001135730.1:c.53-2772A>G | NP_001129202.1:n.53-2772A>G | |
| NM_001135732.1:c.53-2772A>G | NP_001129204.1:n.53-2772A>G | |
| NM_005488.2:c.53-2772A>G | NP_005479.1:n.53-2772A>G | |
| NR_024194.1:n.178-2772A>G | ||
| NR_024195.1:n.178-2772A>G | ||
| XM_011529818.1:c.-255-2772A>G | XP_011528120.1:n.-255-2772A>G | |
| XM_011529819.1:c.53-2772A>G | XP_011528121.1:n.53-2772A>G | |
| XM_011529820.1:c.-325-2772A>G | XP_011528122.1:n.-325-2772A>G | |
| NR_156428.1:n.178-2772A>G | ||
| XM_011529818.2:c.-255-2772A>G | XP_011528120.1:n.-255-2772A>G | |
| XM_011529820.2:c.-325-2772A>G | XP_011528122.1:n.-325-2772A>G | |
| XM_017028529.1:c.-255-2772A>G | XP_016884018.1:n.-255-2772A>G | |
| NM_005488.3:c.53-2772A>G MANE Select | NP_005479.1:n.53-2772A>G | |
| NR_024194.2:n.88-2772A>G | ||
| NR_024195.2:n.88-2772A>G | ||
| NR_156428.2:n.88-2772A>G | ||
| NM_001135729.2:c.-47-2772A>G | NP_001129201.1:n.-47-2772A>G | |
| NM_001135730.2:c.53-2772A>G | NP_001129202.1:n.53-2772A>G | |
| NM_001135732.2:c.53-2772A>G | NP_001129204.1:n.53-2772A>G |