Linked Data
dbSNP Id:
rs1470217
gnomAD v2:
9-32903868-G-A
gnomAD v3:
9-32903870-G-A
gnomAD v4:
9-32903870-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32903870G>A , CM000671.2:g.32903870G>A | GRCh38 |
| NC_000009.11:g.32903868G>A , CM000671.1:g.32903868G>A | GRCh37 |
| NC_000009.10:g.32893868G>A | NCBI36 |
| NG_012821.2:g.126262C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672846.1:c.*1056-16624C>T | ENSP00000500396.1:n.*1056-16624C>T | |
| XM_017014831.1:c.1043-11956C>T | XP_016870320.1:n.1043-11956C>T | |
| XM_017014832.1:c.1043-16624C>T | XP_016870321.1:n.1043-16624C>T |