Linked Data
dbSNP Id:
rs1563672964
gnomAD v2:
8-63951556-T-A
gnomAD v3:
8-63038997-T-A
gnomAD v4:
8-63038997-T-A
MyVariant Identifiers:
chr8:g.63951556_63951562delinsACCGCGA (hg19)
chr8:g.63038997_63039003delinsACCGCGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63038997T>A , CM000670.2:g.63038997T>A | GRCh38 |
| NC_000008.10:g.63951556T>A , CM000670.1:g.63951556T>A | GRCh37 |
| NC_000008.9:g.64114110T>A | NCBI36 |
| NG_028126.1:g.5055A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000677327.1:n.411A>T | ||
| ENST00000679326.1:c.-229A>T | ENSP00000504262.1:n.-229A>T | |
| ENST00000260118.6:c.-229A>T | ENSP00000260118.6:n.-229A>T | |
| NM_003878.2:c.-229A>T | NP_003869.1:n.-229A>T | |
| XM_011517623.1:c.-229A>T | XP_011515925.1:n.-229A>T |