gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68044998 (AFR)
Genomes Max Group AF
0.68044998 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79695550A>G , CM000667.2:g.79695550A>G | GRCh38 |
| NC_000005.9:g.78991373A>G , CM000667.1:g.78991373A>G | GRCh37 |
| NC_000005.8:g.79027129A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446378.3:c.149+5494A>G MANE Select | ENSP00000394770.2:n.149+5494A>G | |
| ENST00000446378.2:c.149+5494A>G | ENSP00000394770.2:n.149+5494A>G | |
| NM_153610.4:c.149+5494A>G | NP_705838.3:n.149+5494A>G | |
| XR_948242.1:n.221+5494A>G | ||
| XM_017009212.1:c.-68+6123A>G | XP_016864701.1:n.-68+6123A>G | |
| XR_001742036.2:n.350+5494A>G | ||
| XR_948242.2:n.350+5494A>G | ||
| NM_153610.5:c.149+5494A>G MANE Select | NP_705838.3:n.149+5494A>G |