gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8776239 (AFR)
Genomes Max Group AF
0.8776239 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41278735T>C , CM000668.2:g.41278735T>C | GRCh38 |
| NC_000006.11:g.41246473T>C , CM000668.1:g.41246473T>C | GRCh37 |
| NC_000006.10:g.41354451T>C | NCBI36 |
| NG_029525.1:g.12985A>G | |
| NG_029525.2:g.12985A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244709.9:c.599+2226A>G MANE Select | ENSP00000244709.3:n.599+2226A>G | |
| ENST00000244709.8:c.599+2226A>G | ENSP00000244709.3:n.599+2226A>G | |
| ENST00000334475.10:c.407-2505A>G | ENSP00000334284.5:n.407-2505A>G | |
| ENST00000589614.5:c.599+2226A>G | ENSP00000465688.1:n.599+2226A>G | |
| ENST00000589695.1:n.274+2226A>G | ||
| NM_001242590.1:c.407-2505A>G | NP_001229519.1:n.407-2505A>G | |
| NM_018643.3:c.599+2226A>G | NP_061113.1:n.599+2226A>G | |
| XM_006715117.2:c.406+3660A>G | XP_006715180.1:n.406+3660A>G | |
| XM_011514696.1:c.599+2226A>G | XP_011512998.1:n.599+2226A>G | |
| NM_001242590.2:c.407-2505A>G | NP_001229519.1:n.407-2505A>G | |
| NM_018643.4:c.599+2226A>G | NP_061113.1:n.599+2226A>G | |
| NR_136332.1:n.689+2226A>G | ||
| XM_006715117.3:c.406+3660A>G | XP_006715180.1:n.406+3660A>G | |
| XM_011514696.2:c.599+2226A>G | XP_011512998.1:n.599+2226A>G | |
| XM_017010956.2:c.599+2226A>G | XP_016866445.1:n.599+2226A>G | |
| XM_017010957.1:c.407-2505A>G | XP_016866446.1:n.407-2505A>G | |
| NM_018643.5:c.599+2226A>G MANE Select | NP_061113.1:n.599+2226A>G | |
| NM_001242590.3:c.407-2505A>G | NP_001229519.1:n.407-2505A>G | |
| NR_136332.2:n.626+2226A>G |