Linked Data
ClinVar Variation Id:
2211470
ClinVar RCV Id:
RCV002668943
dbSNP Id:
rs752949415
gnomAD v3:
19-54923859-C-T
gnomAD v4:
19-54923859-C-T
MyVariant Identifiers:
chr19:g.54923859C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54923859C>T , CM000681.2:g.54923859C>T | GRCh38 |
| NC_000019.8:g.60127039C>T | NCBI36 |
| NG_008056.1:g.28647G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592784.6:c.2995G>A (NLRP7) MANE Select | ENSP00000468706.1:p.Glu999Lys | |
| ENST00000328092.9:c.2911G>A (NLRP7) | ENSP00000329568.5:p.Glu971Lys | |
| ENST00000340844.6:c.2824G>A (NLRP7) | ENSP00000339491.2:p.Glu942Lys | |
| ENST00000586379.5:c.*66G>A (NLRP7) | ENSP00000468243.1:n.*66G>A | |
| ENST00000588756.5:c.2995G>A (NLRP7) | ENSP00000467123.1:p.Glu999Lys | |
| ENST00000590030.5:c.2824G>A (NLRP7) | ENSP00000465520.1:p.Glu942Lys | |
| ENST00000592784.5:c.2995G>A (NLRP7) | ENSP00000468706.1:p.Glu999Lys | |
| NM_001127255.1:c.2995G>A (NLRP7) | NP_001120727.1:p.Glu999Lys | |
| NM_139176.3:c.2911G>A (NLRP7) | NP_631915.2:p.Glu971Lys | |
| NM_206828.3:c.2824G>A (NLRP7) | NP_996611.2:p.Glu942Lys | |
| XM_006723075.2:c.2995G>A (NLRP7) | XP_006723138.1:p.Glu999Lys | |
| XM_006723076.2:c.2995G>A (NLRP7) | XP_006723139.1:p.Glu999Lys | |
| XM_011526596.1:c.3079G>A (NLRP7) | XP_011524898.1:p.Glu1027Lys | |
| XM_011526597.1:c.3079G>A (NLRP7) | XP_011524899.1:p.Glu1027Lys | |
| XM_011526598.1:c.3079G>A (NLRP7) | XP_011524900.1:p.Glu1027Lys | |
| XM_011526599.1:c.2995G>A (NLRP7) | XP_011524901.1:p.Glu999Lys | |
| XM_011526600.1:c.2995G>A (NLRP7) | XP_011524902.1:p.Glu999Lys | |
| XM_011526601.1:c.2908G>A (NLRP7) | XP_011524903.1:p.Glu970Lys | |
| XM_011527530.1:c.682+13794C>T (NCR1) | XP_011525832.1:n.682+13794C>T | |
| XR_935761.1:n.3476G>A (NLRP7) | ||
| XM_006723075.3:c.2995G>A (NLRP7) | XP_006723138.1:p.Glu999Lys | |
| XM_006723076.3:c.2995G>A (NLRP7) | XP_006723139.1:p.Glu999Lys | |
| XM_011526596.2:c.3079G>A (NLRP7) | XP_011524898.1:p.Glu1027Lys | |
| XM_011526599.2:c.2995G>A (NLRP7) | XP_011524901.1:p.Glu999Lys | |
| XM_011526601.2:c.2908G>A (NLRP7) | XP_011524903.1:p.Glu970Lys | |
| XM_011527530.3:c.682+13794C>T (NCR1) | XP_011525832.1:n.682+13794C>T |