Linked Data
ClinVar Variation Id:
56066
ClinVar RCV Id:
RCV000049475
dbSNP Id:
rs386833547
PubMed:
PMID:16450403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6554726T>G , CM000671.2:g.6554726T>G | GRCh38 |
| NC_000009.11:g.6554726T>G , CM000671.1:g.6554726T>G | GRCh37 |
| NC_000009.10:g.6544726T>G | NCBI36 |
| NG_016397.1:g.95967A>C , LRG_643:g.95967A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2258A>C MANE Select | ENSP00000370737.4:p.His753Pro | |
| ENST00000638233.1:n.693A>C | ||
| ENST00000638661.1:c.458A>C | ENSP00000491369.1:p.His153Pro | |
| ENST00000638694.1:n.445A>C | ||
| ENST00000639318.1:c.458A>C | ENSP00000491932.1:p.His153Pro | |
| ENST00000639364.1:n.1958A>C | ||
| ENST00000639443.1:n.1826A>C | ||
| ENST00000639639.1:c.-41A>C | ENSP00000491312.1:n.-41A>C | |
| ENST00000639954.1:n.1966A>C | ||
| ENST00000640505.1:n.497A>C | ||
| ENST00000321612.6:c.2258A>C | ENSP00000370737.3:p.His753Pro | |
| ENST00000467946.1:n.184A>C | ||
| NM_000170.2:c.2258A>C , LRG_643t1:c.2258A>C | NP_000161.2:p.His753Pro | |
| NM_000170.3:c.2258A>C MANE Select | NP_000161.2:p.His753Pro |