gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06448649 (AFR)
Genomes Max Group AF
0.06448649 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.132208726T>C , CM000669.2:g.132208726T>C | GRCh38 |
| NC_000007.13:g.131893485T>C , CM000669.1:g.131893485T>C | GRCh37 |
| NC_000007.12:g.131544025T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321063.9:c.2298+2217A>G MANE Select | ENSP00000323194.4:n.2298+2217A>G | |
| ENST00000321063.8:c.2298+2217A>G | ENSP00000323194.4:n.2298+2217A>G | |
| ENST00000359827.7:c.2298+2217A>G | ENSP00000352882.3:n.2298+2217A>G | |
| NM_020911.1:c.2298+2217A>G | NP_065962.1:n.2298+2217A>G | |
| XM_005250686.3:c.2298+2217A>G | XP_005250743.1:n.2298+2217A>G | |
| XM_006716171.2:c.2298+2217A>G | XP_006716234.1:n.2298+2217A>G | |
| XM_011516676.1:c.2298+2217A>G | XP_011514978.1:n.2298+2217A>G | |
| XR_927546.1:n.2433+2217A>G | ||
| XM_005250686.5:c.2298+2217A>G | XP_005250743.1:n.2298+2217A>G | |
| XM_006716171.4:c.2298+2217A>G | XP_006716234.1:n.2298+2217A>G | |
| XM_011516676.2:c.2298+2217A>G | XP_011514978.1:n.2298+2217A>G | |
| XM_017012779.1:c.2098-5307A>G | XP_016868268.1:n.2098-5307A>G | |
| XR_927546.2:n.2433+2217A>G | ||
| NM_001393897.1:c.2298+2217A>G | NP_001380826.1:n.2298+2217A>G | |
| NM_020911.2:c.2298+2217A>G MANE Select | NP_065962.1:n.2298+2217A>G |