gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24339792 (EAS)
Genomes Max Group AF
0.24339792 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11780735A>G , CM000670.2:g.11780735A>G | GRCh38 |
| NC_000008.10:g.11638244A>G , CM000670.1:g.11638244A>G | GRCh37 |
| NC_000008.9:g.11675653A>G | NCBI36 |
| NG_053043.1:g.16073A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284503.7:c.491+785A>G MANE Select | ENSP00000284503.6:n.491+785A>G | |
| ENST00000284503.6:c.491+785A>G | ENSP00000284503.6:n.491+785A>G | |
| ENST00000403422.7:c.308+785A>G | ENSP00000384070.3:n.308+785A>G | |
| ENST00000436750.7:c.491+785A>G | ENSP00000394023.2:n.491+785A>G | |
| ENST00000455213.6:c.491+785A>G | ENSP00000397538.2:n.491+785A>G | |
| ENST00000528113.5:c.139-2468A>G | ENSP00000437004.1:n.139-2468A>G | |
| ENST00000528323.5:c.144-2468A>G | ENSP00000435657.1:n.144-2468A>G | |
| NM_001135746.1:c.491+785A>G | NP_001129218.1:n.491+785A>G | |
| NM_001135747.1:c.308+785A>G | NP_001129219.1:n.308+785A>G | |
| NM_001135748.1:c.144-2468A>G | NP_001129220.1:n.144-2468A>G | |
| NM_145043.2:c.491+785A>G | NP_659480.1:n.491+785A>G | |
| XM_005272381.1:c.491+785A>G | XP_005272438.1:n.491+785A>G | |
| XM_005272382.1:c.308+785A>G | XP_005272439.1:n.308+785A>G | |
| XM_005272383.1:c.308+785A>G | XP_005272440.1:n.308+785A>G | |
| NM_001135746.2:c.491+785A>G | NP_001129218.1:n.491+785A>G | |
| NM_001135747.2:c.308+785A>G | NP_001129219.1:n.308+785A>G | |
| NM_001135748.2:c.144-2468A>G | NP_001129220.1:n.144-2468A>G | |
| NM_001349439.1:c.308+785A>G | NP_001336368.1:n.308+785A>G | |
| NM_001349440.1:c.308+785A>G | NP_001336369.1:n.308+785A>G | |
| NM_001349441.1:c.308+785A>G | NP_001336370.1:n.308+785A>G | |
| NM_001349442.1:c.491+785A>G | NP_001336371.1:n.491+785A>G | |
| NM_145043.3:c.491+785A>G | NP_659480.1:n.491+785A>G | |
| NR_146180.1:n.1232+213A>G | ||
| NR_146181.1:n.1399+213A>G | ||
| NR_146182.1:n.308-2468A>G | ||
| NM_145043.4:c.491+785A>G MANE Select | NP_659480.1:n.491+785A>G | |
| NM_001135746.3:c.491+785A>G | NP_001129218.1:n.491+785A>G | |
| NM_001135747.3:c.308+785A>G | NP_001129219.1:n.308+785A>G | |
| NM_001135748.3:c.144-2468A>G | NP_001129220.1:n.144-2468A>G | |
| NM_001349439.2:c.308+785A>G | NP_001336368.1:n.308+785A>G | |
| NM_001349440.2:c.308+785A>G | NP_001336369.1:n.308+785A>G | |
| NM_001349441.2:c.308+785A>G | NP_001336370.1:n.308+785A>G | |
| NM_001349442.2:c.491+785A>G | NP_001336371.1:n.491+785A>G | |
| NR_146180.2:n.1147+213A>G | ||
| NR_146181.2:n.1314+213A>G | ||
| NR_146182.2:n.223-2468A>G |