Linked Data
ClinVar Variation Id:
177881
ClinVar RCV Id:
RCV000154530
RCV000444370
RCV000424748
RCV001004043
RCV002056053
RCV002514970
RCV002408686
dbSNP Id:
rs17851045
PubMed:
PMID:2278970
PMID:3122217
PMID:12460918
PMID:15696205
PMID:16361624
PMID:16434492
PMID:16618717
PMID:18316791
PMID:18794081
PMID:19075190
PMID:19114683
PMID:19679400
PMID:20921462
PMID:20921465
PMID:21228335
PMID:22407852
PMID:22722830
PMID:23325582
PMID:25157968
CIViC:
CA180922
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25227341T>G , CM000674.2:g.25227341T>G | GRCh38 |
| NC_000012.11:g.25380275T>G , CM000674.1:g.25380275T>G | GRCh37 |
| NC_000012.10:g.25271542T>G | NCBI36 |
| NG_007524.1:g.28580A>C | |
| NG_007524.2:g.28663A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.112-17430A>C | ENSP00000452512.1:n.112-17430A>C | |
| ENST00000685328.1:c.183A>C | ENSP00000508921.1:p.Gln61His | |
| ENST00000686877.1:c.*154A>C | ENSP00000510431.1:n.*154A>C | |
| ENST00000687356.1:c.112-1568A>C | ENSP00000510511.1:n.112-1568A>C | |
| ENST00000688228.1:n.657A>C | ||
| ENST00000688940.1:c.183A>C | ENSP00000509238.1:p.Gln61His | |
| ENST00000690804.1:c.*144A>C | ENSP00000508568.1:n.*144A>C | |
| ENST00000692768.1:c.-16A>C | ENSP00000510254.1:n.-16A>C | |
| ENST00000693229.1:c.112-4A>C | ENSP00000509223.1:n.112-4A>C | |
| ENST00000256078.10:c.183A>C MANE Plus Clinical | ENSP00000256078.5:p.Gln61His | |
| ENST00000311936.8:c.183A>C MANE Select | ENSP00000308495.3:p.Gln61His | |
| ENST00000256078.8:c.183A>C | ENSP00000256078.4:p.Gln61His | |
| ENST00000311936.7:c.183A>C | ENSP00000308495.3:p.Gln61His | |
| ENST00000557334.5:c.112-17430A>C | ENSP00000452512.1:n.112-17430A>C | |
| NM_004985.4:c.183A>C | NP_004976.2:p.Gln61His | |
| NM_033360.3:c.183A>C | NP_203524.1:p.Gln61His | |
| XM_006719069.2:c.183A>C | XP_006719132.1:p.Gln61His | |
| XM_011520653.1:c.183A>C | XP_011518955.1:p.Gln61His | |
| XM_006719069.4:c.183A>C | XP_006719132.1:p.Gln61His | |
| XM_011520653.3:c.183A>C | XP_011518955.1:p.Gln61His | |
| NM_001369786.1:c.183A>C | NP_001356715.1:p.Gln61His | |
| NM_001369787.1:c.183A>C | NP_001356716.1:p.Gln61His | |
| NM_004985.5:c.183A>C MANE Select | NP_004976.2:p.Gln61His | |
| NM_033360.4:c.183A>C MANE Plus Clinical | NP_203524.1:p.Gln61His |