gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16828293T>C , CM000672.2:g.16828293T>C | GRCh38 |
| NC_000010.10:g.16870292T>C , CM000672.1:g.16870292T>C | GRCh37 |
| NC_000010.9:g.16910298T>C | NCBI36 |
| NG_008967.1:g.306525A>G , LRG_540:g.306525A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.10764+512A>G MANE Select | ENSP00000367064.4:n.10764+512A>G | |
| ENST00000377833.8:c.10764+512A>G | ENSP00000367064.4:n.10764+512A>G | |
| NM_001081.3:c.10764+512A>G , LRG_540t1:c.10764+512A>G | NP_001072.2:n.10764+512A>G | |
| XM_011519709.1:c.6750+512A>G | XP_011518011.1:n.6750+512A>G | |
| XM_011519710.1:c.6726+512A>G | XP_011518012.1:n.6726+512A>G | |
| XM_011519711.1:c.6606+512A>G | XP_011518013.1:n.6606+512A>G | |
| XM_011519709.2:c.6750+512A>G | XP_011518011.1:n.6750+512A>G | |
| XM_011519710.2:c.6726+512A>G | XP_011518012.1:n.6726+512A>G | |
| XM_011519711.3:c.6606+512A>G | XP_011518013.1:n.6606+512A>G | |
| NM_001081.4:c.10764+512A>G MANE Select | NP_001072.2:n.10764+512A>G |