gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006828 (EAS)
Genomes Max Group AF
0.00006828 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53334171G>C , CM000674.2:g.53334171G>C | GRCh38 |
| NC_000012.11:g.53727955G>C , CM000674.1:g.53727955G>C | GRCh37 |
| NC_000012.10:g.52014222G>C | NCBI36 |
| NG_023391.1:g.7050C>G | |
| NG_023391.2:g.15623C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536324.4:c.21+1455C>G MANE Select | ENSP00000443827.2:n.21+1455C>G | |
| ENST00000303846.3:c.21+1455C>G | ENSP00000302812.3:n.21+1455C>G | |
| ENST00000536324.3:c.21+1455C>G | ENSP00000443827.2:n.21+1455C>G | |
| ENST00000537210.2:c.-34+1975C>G | ENSP00000441367.2:n.-34+1975C>G | |
| ENST00000547755.1:c.-33-4751C>G | ENSP00000449355.1:n.-33-4751C>G | |
| NM_001173467.2:c.21+1455C>G | NP_001166938.1:n.21+1455C>G | |
| NM_001300837.1:c.-34+1975C>G | NP_001287766.1:n.-34+1975C>G | |
| NM_152860.1:c.21+1455C>G | NP_690599.1:n.21+1455C>G | |
| XM_011537900.1:c.-34+1975C>G | XP_011536202.1:n.-34+1975C>G | |
| XM_011537901.1:c.-33-4751C>G | XP_011536203.1:n.-33-4751C>G | |
| XM_011537900.2:c.-34+1975C>G | XP_011536202.1:n.-34+1975C>G | |
| NM_001173467.3:c.21+1455C>G MANE Select | NP_001166938.1:n.21+1455C>G | |
| NM_152860.2:c.21+1455C>G | NP_690599.1:n.21+1455C>G | |
| NM_001300837.2:c.-34+1975C>G | NP_001287766.1:n.-34+1975C>G |