gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.104337068C>G , CM000674.2:g.104337068C>G | GRCh38 |
| NC_000012.11:g.104730846C>G , CM000674.1:g.104730846C>G | GRCh37 |
| NC_000012.10:g.103254976C>G | NCBI36 |
| NG_029392.1:g.126288C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526950.2:c.1642-2071C>G | ENSP00000432812.2:n.1642-2071C>G | |
| ENST00000525566.6:c.1747-2071C>G MANE Select | ENSP00000434516.1:n.1747-2071C>G | |
| ENST00000354940.10:c.1297-2071C>G | ENSP00000347020.7:n.1297-2071C>G | |
| ENST00000388854.7:c.1447-2071C>G | ENSP00000373506.4:n.1447-2071C>G | |
| ENST00000397736.6:c.1183-2071C>G | ENSP00000380844.3:n.1183-2071C>G | |
| ENST00000429002.6:c.1747-2071C>G | ENSP00000412045.4:n.1747-2071C>G | |
| ENST00000503506.6:c.1297-2071C>G | ENSP00000421934.2:n.1297-2071C>G | |
| ENST00000524698.5:c.1297-2071C>G | ENSP00000433425.1:n.1297-2071C>G | |
| ENST00000525265.1:n.207-2071C>G | ||
| ENST00000525566.5:c.1747-2071C>G | ENSP00000434516.1:n.1747-2071C>G | |
| ENST00000526390.5:c.1429-2071C>G | ENSP00000435123.1:n.1429-2071C>G | |
| ENST00000526691.5:c.1453-2071C>G | ENSP00000435929.1:n.1453-2071C>G | |
| ENST00000526950.1:c.1504-2071C>G | ENSP00000432812.1:n.1504-2071C>G | |
| ENST00000527688.5:c.1297-2071C>G | ENSP00000433935.1:n.1297-2071C>G | |
| ENST00000529546.5:c.1183-2071C>G | ENSP00000434919.1:n.1183-2071C>G | |
| NM_001093771.2:c.1747-2071C>G | NP_001087240.1:n.1747-2071C>G | |
| NM_001261445.1:c.1447-2071C>G | NP_001248374.1:n.1447-2071C>G | |
| NM_001261446.1:c.1183-2071C>G | NP_001248375.1:n.1183-2071C>G | |
| NM_003330.3:c.1453-2071C>G | NP_003321.3:n.1453-2071C>G | |
| NM_182729.2:c.1297-2071C>G | NP_877393.1:n.1297-2071C>G | |
| NM_182742.2:c.1297-2071C>G | NP_877419.1:n.1297-2071C>G | |
| NM_182743.2:c.1297-2071C>G | NP_877420.1:n.1297-2071C>G | |
| NM_001093771.3:c.1747-2071C>G MANE Select | NP_001087240.1:n.1747-2071C>G | |
| NM_001261445.2:c.1447-2071C>G | NP_001248374.1:n.1447-2071C>G | |
| NM_001261446.2:c.1183-2071C>G | NP_001248375.1:n.1183-2071C>G | |
| NM_003330.4:c.1453-2071C>G | NP_003321.3:n.1453-2071C>G | |
| NM_182729.3:c.1297-2071C>G | NP_877393.1:n.1297-2071C>G | |
| NM_182742.3:c.1297-2071C>G | NP_877419.1:n.1297-2071C>G | |
| NM_182743.3:c.1297-2071C>G | NP_877420.1:n.1297-2071C>G |