Linked Data
dbSNP Id:
rs749728161
ExAC:
6:32609967 G / A
gnomAD v2:
6-32609967-G-A
gnomAD v4:
6-32642190-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32642190G>A , CM000668.2:g.32642190G>A | GRCh38 |
| NC_000006.11:g.32609967G>A , CM000668.1:g.32609967G>A | GRCh37 |
| NC_000006.10:g.32717945G>A | NCBI36 |
| NG_032876.1:g.9785G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343139.11:c.550G>A MANE Select | ENSP00000339398.5:p.Asp184Asn | |
| ENST00000343139.9:c.550G>A | ENSP00000339398.5:p.Asp184Asn | |
| ENST00000374949.2:c.550G>A | ENSP00000364087.2:p.Asp184Asn | |
| ENST00000395363.5:c.550G>A | ENSP00000378767.1:p.Asp184Asn | |
| ENST00000460633.1:n.578G>A | ||
| ENST00000482745.5:c.*1382G>A | ENSP00000436546.1:n.*1382G>A | |
| ENST00000496318.5:c.550G>A | ENSP00000437302.1:p.Asp184Asn | |
| NM_002122.3:c.550G>A | NP_002113.2:p.Asp184Asn | |
| XM_006715079.2:c.550G>A | XP_006715142.1:p.Asp184Asn | |
| XM_006715079.4:c.550G>A | XP_006715142.1:p.Asp184Asn | |
| XR_001744085.1:n.86+398C>T | ||
| NM_002122.5:c.550G>A MANE Select | NP_002113.2:p.Asp184Asn |