Linked Data
ClinVar Variation Id:
132793
ClinVar RCV Id:
RCV000119262
dbSNP Id:
rs587777380
PubMed:
PMID:24827035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39830478T>G , CM000681.2:g.39830478T>G | GRCh38 |
| NC_000019.9:g.40321118T>G , CM000681.1:g.40321118T>G | GRCh37 |
| NC_000019.8:g.45012958T>G | NCBI36 |
| NG_034145.1:g.8756A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323039.10:c.269A>C MANE Select | ENSP00000312789.4:p.His90Pro | |
| ENST00000323039.9:c.269A>C | ENSP00000312789.4:p.His90Pro | |
| ENST00000348817.7:c.269A>C | ENSP00000221803.4:p.His90Pro | |
| ENST00000430012.6:c.269A>C | ENSP00000403182.1:p.His90Pro | |
| ENST00000593685.5:c.269A>C | ENSP00000469863.1:p.His90Pro | |
| ENST00000597639.5:c.269A>C | ENSP00000472941.1:p.His90Pro | |
| ENST00000600611.5:c.269A>C | ENSP00000471609.1:p.His90Pro | |
| ENST00000601972.1:c.269A>C | ENSP00000472861.1:p.His90Pro | |
| NM_004714.2:c.269A>C | NP_004705.1:p.His90Pro | |
| NM_006483.2:c.269A>C | NP_006474.1:p.His90Pro | |
| NM_006484.2:c.269A>C | NP_006475.1:p.His90Pro | |
| XM_005259395.2:c.449A>C | XP_005259452.1:p.His150Pro | |
| XM_005259398.3:c.269A>C | XP_005259455.1:p.His90Pro | |
| XM_011527469.1:c.449A>C | XP_011525771.1:p.His150Pro | |
| XM_011527470.1:c.449A>C | XP_011525772.1:p.His150Pro | |
| XM_005259398.4:c.269A>C | XP_005259455.1:p.His90Pro | |
| NM_004714.3:c.269A>C MANE Select | NP_004705.1:p.His90Pro | |
| NM_006483.3:c.269A>C | NP_006474.1:p.His90Pro | |
| NM_006484.3:c.269A>C | NP_006475.1:p.His90Pro |