gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000035 (AFR)
Genomes Max Group AF
0.00001914 (AFR)
Exomes Max Group AF
0.00002436 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835211T>C , CM000672.2:g.102835211T>C | GRCh38 |
| NC_000010.10:g.104594968T>C , CM000672.1:g.104594968T>C | GRCh37 |
| NC_000010.9:g.104584958T>C | NCBI36 |
| NG_007955.1:g.7323A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.436+43A>G MANE Select | ENSP00000358903.3:n.436+43A>G | |
| ENST00000638190.1:c.436+43A>G | ENSP00000492539.1:n.436+43A>G | |
| ENST00000638272.1:c.297+1854A>G | ENSP00000491508.1:n.297+1854A>G | |
| ENST00000638971.1:c.436+43A>G | ENSP00000492313.1:n.436+43A>G | |
| ENST00000639393.1:c.436+43A>G | ENSP00000492651.1:n.436+43A>G | |
| ENST00000640633.1:n.198+43A>G | ||
| ENST00000369887.3:c.436+43A>G | ENSP00000358903.3:n.436+43A>G | |
| ENST00000489268.1:n.690+43A>G | ||
| NM_000102.3:c.436+43A>G | NP_000093.1:n.436+43A>G | |
| NM_000102.4:c.436+43A>G MANE Select | NP_000093.1:n.436+43A>G |