Linked Data
dbSNP Id:
rs1567915651
gnomAD v2:
17-17697091-G-A
gnomAD v4:
17-17793777-G-A
MyVariant Identifiers:
chr17:g.17697091G>A (hg19)
chr17:g.17697091_17697094delinsAACC (hg19)
chr17:g.17793777G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17793777G>A , CM000679.2:g.17793777G>A | GRCh38 |
| NC_000017.10:g.17697091G>A , CM000679.1:g.17697091G>A | GRCh37 |
| NC_000017.9:g.17637816G>A | NCBI36 |
| NG_007101.2:g.117305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.829G>A MANE Select | ENSP00000323074.4:p.Asp277Asn | |
| ENST00000640861.1:c.763G>A | ENSP00000491773.1:p.Asp255Asn | |
| ENST00000353383.5:c.829G>A | ENSP00000323074.4:p.Asp277Asn | |
| ENST00000395774.1:c.829G>A | ENSP00000379120.1:p.Asp277Asn | |
| NM_030665.3:c.829G>A | NP_109590.3:p.Asp277Asn | |
| XM_017024025.1:c.829G>A | XP_016879514.1:p.Asp277Asn | |
| XM_017024026.1:c.829G>A | XP_016879515.1:p.Asp277Asn | |
| XM_017024027.1:c.829G>A | XP_016879516.1:p.Asp277Asn | |
| XM_017024028.2:c.829G>A | XP_016879517.1:p.Asp277Asn | |
| NM_030665.4:c.829G>A MANE Select | NP_109590.3:p.Asp277Asn |