gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59237972 (EAS)
Genomes Max Group AF
0.59237972 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74230591A>C , CM000664.2:g.74230591A>C | GRCh38 |
| NC_000002.11:g.74457718A>C , CM000664.1:g.74457718A>C | GRCh37 |
| NC_000002.10:g.74311226A>C | NCBI36 |
| NG_032663.1:g.117817T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394019.7:c.2847+645T>G MANE Select | ENSP00000377587.2:n.2847+645T>G | |
| ENST00000425249.6:c.2554+645T>G | ENSP00000405678.2:n.2554+645T>G | |
| ENST00000346834.8:c.2847+645T>G | ENSP00000251768.7:n.2847+645T>G | |
| ENST00000358683.8:c.2541+645T>G | ENSP00000351513.4:n.2541+645T>G | |
| ENST00000377632.5:c.2847+645T>G | ENSP00000366859.1:n.2847+645T>G | |
| ENST00000377634.8:c.2847+645T>G | ENSP00000366861.4:n.2847+645T>G | |
| ENST00000394019.6:c.2847+645T>G | ENSP00000377587.2:n.2847+645T>G | |
| ENST00000423644.5:c.2847+645T>G | ENSP00000395804.2:n.2847+645T>G | |
| ENST00000425249.5:c.2554+645T>G | ENSP00000405678.1:n.2554+645T>G | |
| ENST00000451608.2:c.4011+645T>G | ENSP00000416453.2:n.4011+645T>G | |
| ENST00000483195.5:n.3473+645T>G | ||
| NM_021196.3:c.2847+645T>G | NP_067019.3:n.2847+645T>G | |
| NM_133478.2:c.2847+645T>G | NP_597812.1:n.2847+645T>G | |
| NM_133478.3:c.2847+645T>G MANE Select | NP_597812.1:n.2847+645T>G | |
| NM_001386136.1:c.2499+645T>G | NP_001373065.1:n.2499+645T>G |