Linked Data
ClinVar Variation Id:
369250
ClinVar RCV Id:
RCV000307089
dbSNP Id:
rs2186944
gnomAD v2:
18-13915542-G-A
gnomAD v3:
18-13915543-G-A
gnomAD v4:
18-13915543-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13915543G>A , CM000680.2:g.13915543G>A | GRCh38 |
| NC_000018.9:g.13915542G>A , CM000680.1:g.13915542G>A | GRCh37 |
| NC_000018.8:g.13905542G>A | NCBI36 |
| NG_011819.1:g.4994C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399821.2:c.-129+87C>T | ENSP00000382718.2:n.-129+87C>T | |
| NM_001291911.1:c.-129+87C>T | NP_001278840.1:n.-129+87C>T | |
| XM_017025781.1:c.-716C>T | XP_016881270.1:n.-716C>T |