Linked Data
ClinVar Variation Id:
500745
dbSNP Id:
rs185972191
gnomAD v2:
9-104198194-C-T
gnomAD v3:
9-101435912-C-T
gnomAD v4:
9-101435912-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101435912C>T , CM000671.2:g.101435912C>T | GRCh38 |
| NC_000009.11:g.104198194C>T , CM000671.1:g.104198194C>T | GRCh37 |
| NC_000009.10:g.103238015C>T | NCBI36 |
| NG_012387.1:g.4869G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648064.1:c.-10-5015G>A | ENSP00000497990.1:n.-10-5015G>A | |
| ENST00000648423.1:c.-64-150G>A | ENSP00000497985.1:n.-64-150G>A | |
| ENST00000648758.1:c.-10-5015G>A | ENSP00000497731.1:n.-10-5015G>A |