gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161323540C>G , CM000663.2:g.161323540C>G | GRCh38 |
| NC_000001.10:g.161293330C>G , CM000663.1:g.161293330C>G | GRCh37 |
| NC_000001.9:g.159559954C>G | NCBI36 |
| NG_012767.1:g.14165C>G , LRG_317:g.14165C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.21-74C>G | ENSP00000482902.2:n.21-74C>G | |
| ENST00000367975.7:c.21-74C>G MANE Select | ENSP00000356953.3:n.21-74C>G | |
| ENST00000342751.8:c.21-74C>G | ENSP00000356952.3:n.21-74C>G | |
| ENST00000367975.6:c.21-74C>G | ENSP00000356953.2:n.21-74C>G | |
| ENST00000392169.6:c.20+9115C>G | ENSP00000376009.2:n.20+9115C>G | |
| ENST00000432287.6:c.21-74C>G | ENSP00000390558.2:n.21-74C>G | |
| ENST00000504963.5:c.21-74C>G | ENSP00000423929.1:n.21-74C>G | |
| ENST00000513009.5:c.21-74C>G | ENSP00000423260.1:n.21-74C>G | |
| ENST00000515731.1:n.495-74C>G | ||
| NM_001035511.1:c.21-74C>G | NP_001030588.1:n.21-74C>G | |
| NM_001035512.1:c.21-74C>G | NP_001030589.1:n.21-74C>G | |
| NM_001035513.1:c.20+9115C>G | NP_001030590.1:n.20+9115C>G | |
| NM_001278172.1:c.21-74C>G | NP_001265101.1:n.21-74C>G | |
| NM_003001.3:c.21-74C>G , LRG_317t1:c.21-74C>G | NP_002992.1:n.21-74C>G | |
| NR_103459.1:n.51-74C>G | ||
| NM_001035511.2:c.21-74C>G | NP_001030588.1:n.21-74C>G | |
| NM_001035512.2:c.21-74C>G | NP_001030589.1:n.21-74C>G | |
| NM_001035513.2:c.20+9115C>G | NP_001030590.1:n.20+9115C>G | |
| NM_001278172.2:c.21-74C>G | NP_001265101.1:n.21-74C>G | |
| NM_003001.5:c.21-74C>G MANE Select | NP_002992.1:n.21-74C>G | |
| NR_103459.2:n.46-74C>G |