Linked Data
dbSNP Id:
rs1332660395
gnomAD v3:
19-54961478-A-G
gnomAD v4:
19-54961478-A-G
MyVariant Identifiers:
chr19:g.54961478A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54961478A>G , CM000681.2:g.54961478A>G | GRCh38 |
| NC_000019.8:g.60164658A>G | NCBI36 |
| NG_052633.1:g.13349A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587103.5:c.-77+4562T>C (NLRP7) | ENSP00000467234.1:n.-77+4562T>C | |
| ENST00000587844.1:c.-40+4562T>C (NLRP7) | ENSP00000468161.1:n.-40+4562T>C | |
| ENST00000588107.5:c.-18+8109A>G (NLRP2) | ENSP00000465069.1:n.-18+8109A>G | |
| ENST00000588619.5:c.-18+8193A>G (NLRP2) | ENSP00000466260.1:n.-18+8193A>G | |
| ENST00000588756.5:c.-284+4562T>C (NLRP7) | ENSP00000467123.1:n.-284+4562T>C | |
| ENST00000590659.1:c.-204+4562T>C (NLRP7) | ENSP00000467589.1:n.-204+4562T>C | |
| XM_006723075.2:c.-77+3472T>C (NLRP7) | XP_006723138.1:n.-77+3472T>C | |
| XM_006723076.2:c.-40+3472T>C (NLRP7) | XP_006723139.1:n.-40+3472T>C | |
| XM_011526596.1:c.-200+3472T>C (NLRP7) | XP_011524898.1:n.-200+3472T>C | |
| XM_011526597.1:c.-200+8378T>C (NLRP7) | XP_011524899.1:n.-200+8378T>C | |
| XM_011526598.1:c.-109+3472T>C (NLRP7) | XP_011524900.1:n.-109+3472T>C | |
| XM_011526599.1:c.-295+3472T>C (NLRP7) | XP_011524901.1:n.-295+3472T>C | |
| XM_011526600.1:c.-77+4562T>C (NLRP7) | XP_011524902.1:n.-77+4562T>C | |
| XM_011526601.1:c.-200+3472T>C (NLRP7) | XP_011524903.1:n.-200+3472T>C | |
| XR_935761.1:n.235+3472T>C (NLRP7) | ||
| XM_006723075.3:c.-77+3472T>C (NLRP7) | XP_006723138.1:n.-77+3472T>C | |
| XM_006723076.3:c.-40+3472T>C (NLRP7) | XP_006723139.1:n.-40+3472T>C | |
| XM_011526596.2:c.-200+3472T>C (NLRP7) | XP_011524898.1:n.-200+3472T>C | |
| XM_011526599.2:c.-295+3472T>C (NLRP7) | XP_011524901.1:n.-295+3472T>C | |
| XM_011526601.2:c.-200+3472T>C (NLRP7) | XP_011524903.1:n.-200+3472T>C |