Linked Data
dbSNP Id:
rs4419330
gnomAD v2:
22-36658855-T-C
gnomAD v3:
22-36262809-T-C
gnomAD v4:
22-36262809-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36262809T>C , CM000684.2:g.36262809T>C | GRCh38 |
| NC_000022.10:g.36658855T>C , CM000684.1:g.36658855T>C | GRCh37 |
| NC_000022.9:g.34988801T>C | NCBI36 |
| NG_023228.1:g.14739T>C , LRG_169:g.14739T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427990.6:c.314+1087T>C | ENSP00000391302.2:n.314+1087T>C | |
| ENST00000433768.6:c.*76+1087T>C | ENSP00000392514.1:n.*76+1087T>C | |
| ENST00000438034.6:c.401+1087T>C | ENSP00000404525.2:n.401+1087T>C | |
| ENST00000397278.8:c.314+1087T>C MANE Select | ENSP00000380448.4:n.314+1087T>C | |
| ENST00000319136.8:c.362+1087T>C | ENSP00000317674.4:n.362+1087T>C | |
| ENST00000397278.7:c.314+1087T>C | ENSP00000380448.3:n.314+1087T>C | |
| ENST00000397279.8:c.314+1087T>C | ENSP00000380449.4:n.314+1087T>C | |
| ENST00000422706.5:c.314+1087T>C | ENSP00000411507.1:n.314+1087T>C | |
| ENST00000426053.5:c.260+1087T>C | ENSP00000388477.1:n.260+1087T>C | |
| ENST00000427990.5:c.314+1087T>C | ENSP00000391302.1:n.314+1087T>C | |
| NM_001136540.1:c.314+1087T>C | NP_001130012.1:n.314+1087T>C | |
| NM_001136541.1:c.260+1087T>C | NP_001130013.1:n.260+1087T>C | |
| NM_003661.3:c.314+1087T>C | NP_003652.2:n.314+1087T>C | |
| NM_145343.2:c.362+1087T>C , LRG_169t1:c.362+1087T>C | NP_663318.1:n.362+1087T>C | |
| XM_005261796.2:c.260+1087T>C | XP_005261853.1:n.260+1087T>C | |
| XM_011530478.1:c.-50+1087T>C | XP_011528780.1:n.-50+1087T>C | |
| NM_001362927.1:c.260+1087T>C | NP_001349856.1:n.260+1087T>C | |
| XM_011530478.2:c.-50+1087T>C | XP_011528780.1:n.-50+1087T>C | |
| NM_001362927.2:c.260+1087T>C | NP_001349856.1:n.260+1087T>C | |
| NM_003661.4:c.314+1087T>C MANE Select | NP_003652.2:n.314+1087T>C | |
| NM_001136540.2:c.314+1087T>C | NP_001130012.1:n.314+1087T>C | |
| NM_001136541.2:c.260+1087T>C | NP_001130013.1:n.260+1087T>C | |
| NM_145343.3:c.362+1087T>C | NP_663318.1:n.362+1087T>C |