Linked Data
ClinVar Variation Id:
8475
ClinVar RCV Id:
RCV000008996
dbSNP Id:
rs2071592
gnomAD v2:
6-31515340-T-A
gnomAD v3:
6-31547563-T-A
gnomAD v4:
6-31547563-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31547563T>A , CM000668.2:g.31547563T>A | GRCh38 |
| NC_000006.11:g.31515340T>A , CM000668.1:g.31515340T>A | GRCh37 |
| NC_000006.10:g.31623319T>A | NCBI36 |
| NG_012344.1:g.5713T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376146.8:c.-13+590T>A (NFKBIL1) | ENSP00000365316.4:n.-13+590T>A | |
| ENST00000415099.2:c.202+663A>T (ATP6V1G2) | ENSP00000390148.2:n.202+663A>T | |
| NM_001144962.1:c.-13+590T>A (NFKBIL1) | NP_001138434.1:n.-13+590T>A | |
| NM_001144963.1:c.-13+590T>A (NFKBIL1) | NP_001138435.1:n.-13+590T>A | |
| NM_001144962.2:c.-13+590T>A (NFKBIL1) | NP_001138434.1:n.-13+590T>A | |
| NM_001144963.2:c.-13+590T>A (NFKBIL1) | NP_001138435.1:n.-13+590T>A |