gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07006314 (AFR)
Genomes Max Group AF
0.07006314 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108631651C>T , CM000674.2:g.108631651C>T | GRCh38 |
| NC_000012.11:g.109025427C>T , CM000674.1:g.109025427C>T | GRCh37 |
| NC_000012.10:g.107549556C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550948.2:c.-6+2089G>A MANE Select | ENSP00000447752.1:n.-6+2089G>A | |
| ENST00000228463.6:c.43+208G>A | ENSP00000228463.6:n.43+208G>A | |
| ENST00000550948.1:c.-6+2089G>A | ENSP00000447752.1:n.-6+2089G>A | |
| NM_001206609.1:c.43+208G>A | NP_001193538.1:n.43+208G>A | |
| NM_003006.4:c.-6+2089G>A MANE Select | NP_002997.2:n.-6+2089G>A | |
| XM_005269076.2:c.-6+2089G>A | XP_005269133.1:n.-6+2089G>A | |
| XR_945327.1:n.283+2902C>T | ||
| XR_945327.3:n.406+2902C>T | ||
| NM_001206609.2:c.43+208G>A | NP_001193538.1:n.43+208G>A |