gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3161499 (AFR)
Genomes Max Group AF
0.3161499 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102986836A>C , CM000663.2:g.102986836A>C | GRCh38 |
| NC_000001.10:g.103452392A>C , CM000663.1:g.103452392A>C | GRCh37 |
| NC_000001.9:g.103224980A>C | NCBI36 |
| NG_008033.1:g.126661T>G | |
| NG_008033.2:g.126661T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2502+797T>G MANE Select | ENSP00000359114.3:n.2502+797T>G | |
| ENST00000353414.8:c.2385+797T>G | ENSP00000302551.6:n.2385+797T>G | |
| ENST00000358392.6:c.2538+797T>G | ENSP00000351163.2:n.2538+797T>G | |
| ENST00000370096.7:c.2502+797T>G | ENSP00000359114.3:n.2502+797T>G | |
| ENST00000512756.5:c.2154+797T>G | ENSP00000426533.1:n.2154+797T>G | |
| ENST00000635193.1:c.1820+797T>G | ||
| NM_001190709.1:c.2385+797T>G | NP_001177638.1:n.2385+797T>G | |
| NM_001854.3:c.2502+797T>G | NP_001845.3:n.2502+797T>G | |
| NM_080629.2:c.2538+797T>G | NP_542196.2:n.2538+797T>G | |
| NM_080630.3:c.2154+797T>G | NP_542197.3:n.2154+797T>G | |
| XM_011540719.1:c.2502+797T>G | XP_011539021.1:n.2502+797T>G | |
| XM_011540720.1:c.735+797T>G | XP_011539022.1:n.735+797T>G | |
| XM_011540721.1:c.74+797T>G | XP_011539023.1:n.74+797T>G | |
| XR_946545.1:n.2900+797T>G | ||
| NR_134980.1:n.2820+797T>G | ||
| XM_017000334.1:c.2655+797T>G | XP_016855823.1:n.2655+797T>G | |
| XM_017000335.1:c.2649+797T>G | XP_016855824.1:n.2649+797T>G | |
| XM_017000336.1:c.2655+797T>G | XP_016855825.1:n.2655+797T>G | |
| XM_017000337.1:c.1053+797T>G | XP_016855826.1:n.1053+797T>G | |
| NM_001854.4:c.2502+797T>G MANE Select | NP_001845.3:n.2502+797T>G | |
| NM_080630.4:c.2154+797T>G | NP_542197.3:n.2154+797T>G | |
| NR_134980.2:n.2846+797T>G | ||
| NM_001190709.2:c.2385+797T>G | NP_001177638.1:n.2385+797T>G | |
| NM_080629.3:c.2538+797T>G | NP_542196.2:n.2538+797T>G |