Linked Data
dbSNP Id:
rs17005931
gnomAD v2:
4-123545648-C-T
gnomAD v3:
4-122624493-C-T
gnomAD v4:
4-122624493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122624493C>T , CM000666.2:g.122624493C>T | GRCh38 |
| NC_000004.11:g.123545648C>T , CM000666.1:g.123545648C>T | GRCh37 |
| NC_000004.10:g.123765098C>T | NCBI36 |
| NG_031966.1:g.1565G>A | |
| NG_031966.2:g.1574G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_104126.1:n.1040-177C>T |