gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12084879 (AFR)
Genomes Max Group AF
0.12084879 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28318120C>G , CM000675.2:g.28318120C>G | GRCh38 |
| NC_000013.10:g.28892257C>G , CM000675.1:g.28892257C>G | GRCh37 |
| NC_000013.9:g.27790257C>G | NCBI36 |
| NG_012003.1:g.182009G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706527.1:n.1112-523G>C | ||
| ENST00000282397.9:c.3287-523G>C MANE Select | ENSP00000282397.4:n.3287-523G>C | |
| ENST00000282397.8:c.3287-523G>C | ENSP00000282397.4:n.3287-523G>C | |
| ENST00000540678.2:c.-473-523G>C | ENSP00000443311.2:n.-473-523G>C | |
| ENST00000543394.2:c.356-523G>C | ENSP00000437841.1:n.356-523G>C | |
| ENST00000615611.4:c.572-523G>C | ENSP00000484385.1:n.572-523G>C | |
| NM_002019.4:c.3287-523G>C MANE Select | NP_002010.2:n.3287-523G>C | |
| XR_941797.1:n.918-409C>G | ||
| XR_941798.1:n.917+4340C>G | ||
| XM_017020485.1:c.3173-523G>C | XP_016875974.1:n.3173-523G>C |