gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.98009781C>T , CM000670.2:g.98009781C>T | GRCh38 |
| NC_000008.10:g.99022009C>T , CM000670.1:g.99022009C>T | GRCh37 |
| NC_000008.9:g.99091185C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254898.7:c.1573+2180C>T MANE Select | ENSP00000254898.6:n.1573+2180C>T | |
| ENST00000254898.6:c.1573+2180C>T | ENSP00000254898.6:n.1573+2180C>T | |
| ENST00000518154.5:c.920+2180C>T | ||
| ENST00000520016.5:c.1573+2180C>T | ENSP00000430487.1:n.1573+2180C>T | |
| ENST00000521689.5:c.1573+2180C>T | ENSP00000429977.1:n.1573+2180C>T | |
| ENST00000521952.5:c.123+2180C>T | ||
| ENST00000522025.6:c.721+2180C>T | ENSP00000429010.1:n.721+2180C>T | |
| ENST00000524308.5:c.1450+2180C>T | ENSP00000430221.1:n.1450+2180C>T | |
| NM_002380.3:c.1573+2180C>T | NP_002371.3:n.1573+2180C>T | |
| NM_030583.2:c.1573+2180C>T | NP_085072.2:n.1573+2180C>T | |
| XM_005250920.1:c.1573+2180C>T | XP_005250977.1:n.1573+2180C>T | |
| XM_011517038.1:c.1450+2180C>T | XP_011515340.1:n.1450+2180C>T | |
| NM_001317748.1:c.1450+2180C>T | NP_001304677.1:n.1450+2180C>T | |
| NM_002380.4:c.1573+2180C>T | NP_002371.3:n.1573+2180C>T | |
| NM_030583.3:c.1573+2180C>T | NP_085072.2:n.1573+2180C>T | |
| XM_005250920.2:c.1573+2180C>T | XP_005250977.1:n.1573+2180C>T | |
| XM_017013417.2:c.1450+2180C>T | XP_016868906.1:n.1450+2180C>T | |
| XM_017013418.2:c.1573+2180C>T | XP_016868907.1:n.1573+2180C>T | |
| NM_002380.5:c.1573+2180C>T MANE Select | NP_002371.3:n.1573+2180C>T | |
| NM_001317748.2:c.1450+2180C>T | NP_001304677.1:n.1450+2180C>T | |
| NM_030583.4:c.1573+2180C>T | NP_085072.2:n.1573+2180C>T |