gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06266607 (EAS)
Genomes Max Group AF
0.04608338 (EAS)
Exomes Max Group AF
0.06431254 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31952442T>C , CM000668.2:g.31952442T>C | GRCh38 |
| NC_000006.11:g.31920219T>C , CM000668.1:g.31920219T>C | GRCh37 |
| NC_000006.10:g.32028198T>C | NCBI36 |
| NG_008191.1:g.11499T>C , LRG_136:g.11499T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375429.8:c.1046-44A>G MANE Select | ENSP00000364578.3:n.1046-44A>G | |
| ENST00000375425.9:c.1067-44A>G | ENSP00000364574.5:n.1067-44A>G | |
| ENST00000375429.7:c.1046-44A>G | ENSP00000364578.3:n.1046-44A>G | |
| ENST00000444811.6:c.956-44A>G | ENSP00000388400.2:n.956-44A>G | |
| ENST00000481121.5:n.1373-44A>G | ||
| ENST00000488426.5:n.1685-44A>G | ||
| ENST00000492185.5:n.1615-44A>G | ||
| NM_002904.5:c.1046-44A>G | NP_002895.3:n.1046-44A>G | |
| XM_006715205.2:c.1031-44A>G | XP_006715268.1:n.1031-44A>G | |
| XM_011514913.1:c.881-44A>G | XP_011513215.1:n.881-44A>G | |
| XM_006715205.3:c.1031-44A>G | XP_006715268.1:n.1031-44A>G | |
| XM_011514913.3:c.881-44A>G | XP_011513215.1:n.881-44A>G | |
| XM_017011299.2:c.866-44A>G | XP_016866788.1:n.866-44A>G | |
| NM_002904.6:c.1046-44A>G MANE Select | NP_002895.3:n.1046-44A>G |