gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38004408 (AFR)
Genomes Max Group AF
0.38004408 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161332949T>C , CM000667.2:g.161332949T>C | GRCh38 |
| NC_000005.9:g.160759956T>C , CM000667.1:g.160759956T>C | GRCh37 |
| NC_000005.8:g.160692534T>C | NCBI36 |
| NG_047050.1:g.220176A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274547.7:c.832+1803A>G | ENSP00000274547.2:n.832+1803A>G | |
| ENST00000393959.6:c.832+1803A>G MANE Select | ENSP00000377531.1:n.832+1803A>G | |
| ENST00000674514.1:n.914+1803A>G | ||
| ENST00000675081.1:c.*291+1803A>G | ENSP00000502207.1:n.*291+1803A>G | |
| ENST00000675303.1:c.832+1803A>G | ENSP00000502748.1:n.832+1803A>G | |
| ENST00000675381.1:c.580+1803A>G | ENSP00000501968.1:n.580+1803A>G | |
| ENST00000675746.1:c.82+1803A>G | ENSP00000502391.1:n.82+1803A>G | |
| ENST00000675773.1:c.832+1803A>G | ENSP00000502701.1:n.832+1803A>G | |
| ENST00000274547.6:c.832+1803A>G | ENSP00000274547.2:n.832+1803A>G | |
| ENST00000353437.10:c.832+1803A>G | ENSP00000274546.6:n.832+1803A>G | |
| ENST00000393959.5:c.832+1803A>G | ENSP00000377531.1:n.832+1803A>G | |
| ENST00000517547.5:c.352+1803A>G | ENSP00000429750.1:n.352+1803A>G | |
| ENST00000517901.5:c.643+1803A>G | ENSP00000430532.1:n.643+1803A>G | |
| ENST00000520240.5:c.832+1803A>G | ENSP00000429320.1:n.832+1803A>G | |
| ENST00000612710.1:c.643+1803A>G | ENSP00000480066.1:n.643+1803A>G | |
| NM_000813.2:c.832+1803A>G | NP_000804.1:n.832+1803A>G | |
| NM_021911.2:c.832+1803A>G | NP_068711.1:n.832+1803A>G | |
| XM_011534501.1:c.82+1803A>G | XP_011532803.1:n.82+1803A>G | |
| NM_000813.3:c.832+1803A>G | NP_000804.1:n.832+1803A>G | |
| NM_001371727.1:c.832+1803A>G MANE Select | NP_001358656.1:n.832+1803A>G | |
| NM_021911.3:c.832+1803A>G | NP_068711.1:n.832+1803A>G |