Linked Data
ClinVar Variation Id:
384212
ClinVar RCV Id:
RCV000430365
dbSNP Id:
rs978380881
gnomAD v4:
14-74493755-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493755G>A , CM000676.2:g.74493755G>A | GRCh38 |
| NC_000014.8:g.74960458G>A , CM000676.1:g.74960458G>A | GRCh37 |
| NC_000014.7:g.74030211G>A | NCBI36 |
| NG_007117.1:g.4627C>T | |
| NG_033074.1:g.5036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556009.5:c.147+276C>T (NPC2) | ||
| ENST00000556816.5:c.-20G>A (ISCA2) | ENSP00000452007.1:n.-20G>A | |
| NM_001272007.1:c.-20G>A (ISCA2) | NP_001258936.1:n.-20G>A | |
| NM_194279.3:c.-20G>A (ISCA2) | NP_919255.2:n.-20G>A |