Linked Data
dbSNP Id:
rs749828528
gnomAD v2:
5-131705373-C-T
gnomAD v3:
5-132369681-C-T
gnomAD v4:
5-132369681-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132369681C>T , CM000667.2:g.132369681C>T | GRCh38 |
| NC_000005.9:g.131705373C>T , CM000667.1:g.131705373C>T | GRCh37 |
| NC_000005.8:g.131733272C>T | NCBI36 |
| NG_008982.1:g.4973C>T | |
| NG_008982.2:g.4978C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110997.1:n.73+163G>A |