gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.175327312T>C , CM000663.2:g.175327312T>C | GRCh38 |
| NC_000001.10:g.175296448T>C , CM000663.1:g.175296448T>C | GRCh37 |
| NC_000001.9:g.173563071T>C | NCBI36 |
| NG_050931.1:g.421391A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367674.7:c.3793+2762A>G MANE Select | ENSP00000356646.1:n.3793+2762A>G | |
| ENST00000263525.6:c.3793+2762A>G | ENSP00000263525.2:n.3793+2762A>G | |
| ENST00000367674.6:c.3793+2762A>G | ENSP00000356646.1:n.3793+2762A>G | |
| NM_003285.2:c.3793+2762A>G | NP_003276.3:n.3793+2762A>G | |
| XM_011509947.1:c.3793+2762A>G | XP_011508249.1:n.3793+2762A>G | |
| XM_011509948.1:c.3529+2762A>G | XP_011508250.1:n.3529+2762A>G | |
| XM_011509949.1:c.3316+2762A>G | XP_011508251.1:n.3316+2762A>G | |
| NM_001328635.1:c.2794+2762A>G | NP_001315564.1:n.2794+2762A>G | |
| XM_011509949.2:c.3316+2762A>G | XP_011508251.1:n.3316+2762A>G | |
| XM_017002218.1:c.3793+2762A>G | XP_016857707.1:n.3793+2762A>G | |
| XM_017002219.1:c.3793+2762A>G | XP_016857708.1:n.3793+2762A>G | |
| XR_001738299.1:n.90-2112T>C | ||
| XR_001738300.1:n.90-2112T>C | ||
| XR_001738301.1:n.68-5996T>C | ||
| XR_001738302.1:n.79-6010T>C | ||
| XR_001738303.1:n.90-2112T>C | ||
| NM_003285.3:c.3793+2762A>G MANE Select | NP_003276.3:n.3793+2762A>G | |
| NM_001328635.2:c.2794+2762A>G | NP_001315564.1:n.2794+2762A>G |