Linked Data
ClinVar Variation Id:
352582
ClinVar RCV Id:
RCV000383199
dbSNP Id:
rs11576000
gnomAD v2:
5-161274217-G-A
gnomAD v3:
5-161847211-G-A
gnomAD v4:
5-161847211-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161847211G>A , CM000667.2:g.161847211G>A | GRCh38 |
| NC_000005.9:g.161274217G>A , CM000667.1:g.161274217G>A | GRCh37 |
| NC_000005.8:g.161206795G>A | NCBI36 |
| NG_011548.1:g.5021G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638112.1:c.-503G>A | ENSP00000489839.1:n.-503G>A | |
| ENST00000023897.10:c.-448G>A | ENSP00000023897.6:n.-448G>A | |
| NM_000806.5:c.-448G>A | NP_000797.2:n.-448G>A | |
| XR_941158.3:n.89+3309C>T |