gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19636493 (MID)
Genomes Max Group AF
0.19479739 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.92635945T>C , CM000677.2:g.92635945T>C | GRCh38 |
| NC_000015.9:g.93179175T>C , CM000677.1:g.93179175T>C | GRCh37 |
| NC_000015.8:g.90980179T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327355.6:c.345-5600A>G MANE Select | ENSP00000329040.5:n.345-5600A>G | |
| ENST00000327355.5:c.345-5600A>G | ENSP00000329040.5:n.345-5600A>G | |
| ENST00000553393.5:c.-80-5600A>G | ENSP00000457201.1:n.-80-5600A>G | |
| ENST00000555064.5:c.-81+3213A>G | ENSP00000455765.1:n.-81+3213A>G | |
| ENST00000555613.1:n.37-5600A>G | ||
| ENST00000555696.5:c.-80-5600A>G | ENSP00000456619.1:n.-80-5600A>G | |
| ENST00000555748.5:c.-80-5600A>G | ENSP00000452295.1:n.-80-5600A>G | |
| ENST00000556824.5:c.-80-5600A>G | ENSP00000455517.1:n.-80-5600A>G | |
| ENST00000557398.2:c.-89-5600A>G | ENSP00000456099.2:n.-89-5600A>G | |
| ENST00000557480.5:c.-80-5600A>G | ENSP00000455213.1:n.-80-5600A>G | |
| NM_207446.2:c.345-5600A>G | NP_997329.2:n.345-5600A>G | |
| XR_931814.1:n.356-5600A>G | ||
| XR_931815.1:n.509-5600A>G | ||
| XR_001751273.1:n.509-5600A>G | ||
| XR_931814.3:n.360-5600A>G | ||
| XR_931815.2:n.512-5600A>G | ||
| NM_207446.3:c.345-5600A>G MANE Select | NP_997329.2:n.345-5600A>G |