gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29712551 (AFR)
Genomes Max Group AF
0.29712551 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.86774159A>G , CM000669.2:g.86774159A>G | GRCh38 |
| NC_000007.13:g.86403475A>G , CM000669.1:g.86403475A>G | GRCh37 |
| NC_000007.12:g.86241411A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361669.7:c.468+8546A>G MANE Select | ENSP00000355316.2:n.468+8546A>G | |
| ENST00000361669.6:c.468+8546A>G | ENSP00000355316.2:n.468+8546A>G | |
| ENST00000439827.1:c.468+8546A>G | ENSP00000398767.1:n.468+8546A>G | |
| ENST00000454217.1:c.85-12102A>G | ENSP00000405427.1:n.85-12102A>G | |
| NM_000840.2:c.468+8546A>G | NP_000831.2:n.468+8546A>G | |
| XM_011516088.1:c.468+8546A>G | XP_011514390.1:n.468+8546A>G | |
| XM_011516089.1:c.468+8546A>G | XP_011514391.1:n.468+8546A>G | |
| XM_011516090.1:c.468+8546A>G | XP_011514392.1:n.468+8546A>G | |
| XR_927721.1:n.2616T>C | ||
| NM_001363522.1:c.468+8546A>G | NP_001350451.1:n.468+8546A>G | |
| XM_017012073.2:c.468+8546A>G | XP_016867562.1:n.468+8546A>G | |
| XR_001745256.1:n.5189T>C | ||
| XR_002956570.1:n.1281T>C | ||
| XR_002956571.1:n.1279T>C | ||
| NM_000840.3:c.468+8546A>G MANE Select | NP_000831.2:n.468+8546A>G | |
| NM_001363522.2:c.468+8546A>G | NP_001350451.1:n.468+8546A>G |