gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000543 (AFR)
Genomes Max Group AF
0.00001099 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825669T>C , CM000671.2:g.127825669T>C | GRCh38 |
| NC_000009.11:g.130587948T>C , CM000671.1:g.130587948T>C | GRCh37 |
| NC_000009.10:g.129627769T>C | NCBI36 |
| NG_009551.1:g.34100A>G , LRG_589:g.34100A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.143+26A>G | ENSP00000479015.1:n.143+26A>G | |
| ENST00000373203.9:c.689+26A>G MANE Select | ENSP00000362299.4:n.689+26A>G | |
| ENST00000344849.4:c.689+26A>G | ENSP00000341917.3:n.689+26A>G | |
| ENST00000373203.8:c.689+26A>G | ENSP00000362299.4:n.689+26A>G | |
| ENST00000480266.5:c.143+26A>G | ENSP00000479015.1:n.143+26A>G | |
| NM_000118.3:c.689+26A>G , LRG_589t1:c.689+26A>G | NP_000109.1:n.689+26A>G | |
| NM_001114753.2:c.689+26A>G , LRG_589t2:c.689+26A>G | NP_001108225.1:n.689+26A>G | |
| NM_001278138.1:c.143+26A>G | NP_001265067.1:n.143+26A>G | |
| XR_001746952.2:n.82+211T>C | ||
| NM_001114753.3:c.689+26A>G MANE Select | NP_001108225.1:n.689+26A>G | |
| NM_001278138.2:c.143+26A>G | NP_001265067.1:n.143+26A>G |