Linked Data
ClinVar Variation Id:
139656
dbSNP Id:
rs587777534
gnomAD v2:
11-88029375-C-T
gnomAD v3:
11-88296207-C-T
gnomAD v4:
11-88296207-C-T
PubMed:
PMID:14974080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.88296207C>T , CM000673.2:g.88296207C>T | GRCh38 |
| NC_000011.9:g.88029375C>T , CM000673.1:g.88029375C>T | GRCh37 |
| NC_000011.8:g.87669023C>T | NCBI36 |
| NG_007952.1:g.46567G>A , LRG_50:g.46567G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227266.10:c.815G>A MANE Select | ENSP00000227266.4:p.Arg272His | |
| ENST00000527018.6:c.815G>A | ENSP00000432556.2:p.Arg272His | |
| ENST00000533897.2:n.5128G>A | ||
| ENST00000676612.1:c.*622G>A | ENSP00000504440.1:n.*622G>A | |
| ENST00000677208.1:c.*321G>A | ENSP00000504347.1:n.*321G>A | |
| ENST00000677661.1:c.*492G>A | ENSP00000503323.1:n.*492G>A | |
| ENST00000677802.1:c.*492G>A | ENSP00000504115.1:n.*492G>A | |
| ENST00000678395.1:c.*321G>A | ENSP00000503123.1:n.*321G>A | |
| ENST00000678464.1:c.815G>A | ENSP00000503046.1:p.Arg272His | |
| ENST00000678506.1:c.776G>A | ENSP00000503580.1:p.Arg259His | |
| ENST00000678520.1:c.*466G>A | ENSP00000503361.1:n.*466G>A | |
| ENST00000678554.1:c.815G>A | ENSP00000504541.1:p.Arg272His | |
| ENST00000678915.1:c.758-1699G>A | ENSP00000504805.1:n.758-1699G>A | |
| ENST00000679224.1:c.452G>A | ENSP00000504475.1:p.Arg151His | |
| ENST00000227266.9:c.815G>A | ENSP00000227266.4:p.Arg272His | |
| ENST00000527018.5:c.685G>A | ||
| ENST00000533897.1:n.3549G>A | ||
| NM_001814.4:c.815G>A , LRG_50t1:c.815G>A | NP_001805.3:p.Arg272His | |
| NM_001814.5:c.815G>A | NP_001805.3:p.Arg272His | |
| NM_001814.6:c.815G>A MANE Select | NP_001805.4:p.Arg272His |