Linked Data
dbSNP Id:
rs1243637968
gnomAD v2:
11-36615190-C-T
gnomAD v3:
11-36593640-C-T
gnomAD v4:
11-36593640-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36593640C>T , CM000673.2:g.36593640C>T | GRCh38 |
| NC_000011.9:g.36615190C>T , CM000673.1:g.36615190C>T | GRCh37 |
| NC_000011.8:g.36571766C>T | NCBI36 |
| NG_007573.1:g.9597G>A , LRG_99:g.9597G>A | |
| NG_033154.1:g.4148C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527033.6:c.529G>A | ENSP00000436895.2:p.Asp177Asn | |
| ENST00000529083.2:c.529G>A | ENSP00000436327.2:p.Asp177Asn | |
| ENST00000532616.2:c.529G>A | ENSP00000432174.2:p.Asp177Asn | |
| ENST00000311485.8:c.529G>A MANE Select | ENSP00000308620.4:p.Asp177Asn | |
| ENST00000311485.7:c.529G>A | ENSP00000308620.3:p.Asp177Asn | |
| ENST00000524423.1:n.131+4462G>A | ||
| ENST00000618712.4:c.529G>A | ENSP00000478672.1:p.Asp177Asn | |
| NM_000536.3:c.529G>A | NP_000527.2:p.Asp177Asn | |
| NM_001243785.1:c.529G>A | NP_001230714.1:p.Asp177Asn | |
| NM_001243786.1:c.529G>A | NP_001230715.1:p.Asp177Asn | |
| NM_000536.4:c.529G>A MANE Select | NP_000527.2:p.Asp177Asn | |
| NM_001243785.2:c.529G>A | NP_001230714.1:p.Asp177Asn | |
| NM_001243786.2:c.529G>A | NP_001230715.1:p.Asp177Asn |