gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53523735 (SAS)
Genomes Max Group AF
0.53523735 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.76532260A>G , CM000678.2:g.76532260A>G | GRCh38 |
| NC_000016.9:g.76566157A>G , CM000678.1:g.76566157A>G | GRCh37 |
| NC_000016.8:g.75123658A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611870.5:c.2756-3285A>G MANE Select | ENSP00000479811.1:n.2756-3285A>G | |
| ENST00000655556.1:c.2756-3285A>G | ENSP00000499374.1:n.2756-3285A>G | |
| ENST00000307431.12:c.2756-3285A>G | ENSP00000306893.9:n.2756-3285A>G | |
| ENST00000377504.8:c.2612-3285A>G | ENSP00000439733.2:n.2612-3285A>G | |
| ENST00000476707.1:c.2765-3285A>G | ENSP00000417628.1:n.2765-3285A>G | |
| ENST00000478060.5:c.2537-3285A>G | ENSP00000418741.1:n.2537-3285A>G | |
| ENST00000611870.4:c.2756-3285A>G | ENSP00000479811.1:n.2756-3285A>G | |
| ENST00000622250.4:c.2612-3285A>G | ENSP00000477698.1:n.2612-3285A>G | |
| NM_033401.3:c.2756-3285A>G | NP_207837.2:n.2756-3285A>G | |
| NM_138994.3:c.2537-3285A>G | NP_620481.2:n.2537-3285A>G | |
| XM_011523402.1:c.2765-3285A>G | XP_011521704.1:n.2765-3285A>G | |
| XM_011523403.1:c.2681-3285A>G | XP_011521705.1:n.2681-3285A>G | |
| XM_011523404.1:c.1829-3285A>G | XP_011521706.1:n.1829-3285A>G | |
| NM_001322178.1:c.2606-3285A>G | NP_001309107.1:n.2606-3285A>G | |
| NM_001322179.1:c.2756-5856A>G | NP_001309108.1:n.2756-5856A>G | |
| NM_001322180.1:c.2369-3285A>G | NP_001309109.1:n.2369-3285A>G | |
| NM_001322181.1:c.2753-3285A>G | NP_001309110.1:n.2753-3285A>G | |
| NM_001322187.1:c.1340-3285A>G | NP_001309116.1:n.1340-3285A>G | |
| NM_001322188.1:c.2756-3285A>G | NP_001309117.1:n.2756-3285A>G | |
| NM_001322189.1:c.2492-3285A>G | NP_001309118.1:n.2492-3285A>G | |
| NM_001322190.1:c.2612-3285A>G | NP_001309119.1:n.2612-3285A>G | |
| NM_001322191.1:c.1829-3285A>G | NP_001309120.1:n.1829-3285A>G | |
| NM_033401.4:c.2756-3285A>G | NP_207837.2:n.2756-3285A>G | |
| NM_138994.4:c.2537-3285A>G | NP_620481.2:n.2537-3285A>G | |
| NR_136210.1:n.3202-3285A>G | ||
| NR_136213.1:n.3243-3285A>G | ||
| NR_136216.1:n.3431-3285A>G | ||
| XM_011523403.2:c.2681-3285A>G | XP_011521705.1:n.2681-3285A>G | |
| XM_017023805.2:c.1829-3285A>G | XP_016879294.1:n.1829-3285A>G | |
| XR_001752013.1:n.3089-3285A>G | ||
| NM_033401.5:c.2756-3285A>G MANE Select | NP_207837.2:n.2756-3285A>G | |
| NM_001322178.2:c.2606-3285A>G | NP_001309107.1:n.2606-3285A>G | |
| NM_001322179.2:c.2756-5856A>G | NP_001309108.1:n.2756-5856A>G | |
| NM_001322180.2:c.2369-3285A>G | NP_001309109.1:n.2369-3285A>G | |
| NM_001322181.2:c.2753-3285A>G | NP_001309110.1:n.2753-3285A>G | |
| NM_001322187.2:c.1340-3285A>G | NP_001309116.1:n.1340-3285A>G | |
| NM_001322188.2:c.2756-3285A>G | NP_001309117.1:n.2756-3285A>G | |
| NM_001322189.2:c.2492-3285A>G | NP_001309118.1:n.2492-3285A>G | |
| NM_001322190.2:c.2612-3285A>G | NP_001309119.1:n.2612-3285A>G | |
| NM_001322191.2:c.1829-3285A>G | NP_001309120.1:n.1829-3285A>G | |
| NM_138994.5:c.2537-3285A>G | NP_620481.2:n.2537-3285A>G | |
| NR_136210.2:n.3018-3285A>G | ||
| NR_136213.2:n.3059-3285A>G | ||
| NR_136216.2:n.3247-3285A>G |