Linked Data
dbSNP Id:
rs1415078831
gnomAD v2:
16-2287554-G-A
gnomAD v3:
16-2237553-G-A
gnomAD v4:
16-2237553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2237553G>A , CM000678.2:g.2237553G>A | GRCh38 |
| NC_000016.9:g.2287554G>A , CM000678.1:g.2287554G>A | GRCh37 |
| NC_000016.8:g.2227555G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320700.10:c.495G>A MANE Select | ENSP00000316938.5:p.Val165= | |
| ENST00000320700.9:c.495G>A | ENSP00000316938.5:p.Val165= | |
| ENST00000382437.8:c.432G>A | ENSP00000371874.4:p.Val144= | |
| ENST00000564065.5:c.495G>A | ENSP00000454562.1:p.Val165= | |
| ENST00000567494.5:c.495G>A | ENSP00000455358.1:p.Val165= | |
| ENST00000569184.1:c.486G>A | ENSP00000455478.1:p.Val162= | |
| ENST00000613572.4:c.432G>A | ENSP00000482627.1:p.Val144= | |
| NM_001301680.1:c.495G>A | NP_001288609.1:p.Val165= | |
| NM_001374.2:c.495G>A | NP_001365.1:p.Val165= | |
| XM_011522399.1:c.768G>A | XP_011520701.1:p.Val256= | |
| XM_011522399.2:c.768G>A | XP_011520701.1:p.Val256= | |
| NM_001374.3:c.495G>A MANE Select | NP_001365.1:p.Val165= | |
| NM_001301680.2:c.495G>A | NP_001288609.1:p.Val165= |