gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78562223 (AFR)
Genomes Max Group AF
0.78562223 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51008674G>A , CM000681.2:g.51008674G>A | GRCh38 |
| NC_000019.9:g.51511930G>A , CM000681.1:g.51511930G>A | GRCh37 |
| NC_000019.8:g.56203742G>A | NCBI36 |
| NG_027832.1:g.5961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594211.2:c.200+509C>T MANE Select | ENSP00000469417.1:n.200+509C>T | |
| ENST00000250366.6:c.200+509C>T | ENSP00000250366.5:n.200+509C>T | |
| ENST00000544410.1:c.43+831C>T | ENSP00000443289.1:n.43+831C>T | |
| ENST00000594211.1:c.200+509C>T | ENSP00000469417.1:n.200+509C>T | |
| NM_012315.1:c.200+509C>T | NP_036447.1:n.200+509C>T | |
| NM_012315.2:c.200+509C>T MANE Select | NP_036447.1:n.200+509C>T |