Linked Data
ClinVar Variation Id:
1233203
ClinVar RCV Id:
RCV001617328
dbSNP Id:
rs34241435
gnomAD v2:
16-23313185-G-A
gnomAD v3:
16-23301864-G-A
gnomAD v4:
16-23301864-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23301864G>A , CM000678.2:g.23301864G>A | GRCh38 |
| NC_000016.9:g.23313185G>A , CM000678.1:g.23313185G>A | GRCh37 |
| NC_000016.8:g.23220686G>A | NCBI36 |
| NG_011908.1:g.4595G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000569789.1:n.178+18060G>A | ||
| XM_017023525.1:c.49+18060G>A | XP_016879014.1:n.49+18060G>A | |
| XM_017023526.1:c.49+18060G>A | XP_016879015.1:n.49+18060G>A |