Linked Data
ClinVar Variation Id:
41017
ClinVar RCV Id:
RCV000033914
RCV000693764
RCV000789426
RCV001699102
RCV003444056
RCV003335061
RCV003886367
dbSNP Id:
rs281865124
PubMed:
PMID:20301384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306912A>G , CM000663.2:g.161306912A>G | GRCh38 |
| NC_000001.10:g.161276702A>G , CM000663.1:g.161276702A>G | GRCh37 |
| NC_000001.9:g.159543326A>G | NCBI36 |
| NG_008055.1:g.8061T>C , LRG_256:g.8061T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.244T>C | ENSP00000488104.2:p.Tyr82His | |
| ENST00000533357.5:c.244T>C MANE Select | ENSP00000432943.1:p.Tyr82His | |
| ENST00000672287.2:c.-345T>C | ENSP00000499818.2:n.-345T>C | |
| ENST00000672602.2:c.244T>C | ENSP00000500814.2:p.Tyr82His | |
| ENST00000674861.1:n.307T>C | ||
| ENST00000463290.5:c.244T>C | ENSP00000431538.1:p.Tyr82His | |
| ENST00000491222.5:c.-345T>C | ENSP00000431441.1:n.-345T>C | |
| ENST00000533357.4:c.244T>C | ENSP00000432943.1:p.Tyr82His | |
| NM_000530.6:c.244T>C , LRG_256t1:c.244T>C | NP_000521.2:p.Tyr82His | |
| NM_000530.7:c.244T>C | NP_000521.2:p.Tyr82His | |
| NM_001315491.1:c.244T>C | NP_001302420.1:p.Tyr82His | |
| XM_017001321.2:c.274T>C | XP_016856810.1:p.Tyr92His | |
| NM_000530.8:c.244T>C MANE Select | NP_000521.2:p.Tyr82His | |
| NM_001315491.2:c.244T>C | NP_001302420.1:p.Tyr82His |