Linked Data
ClinVar Variation Id:
6771
ClinVar RCV Id:
RCV000007173
dbSNP Id:
rs61752095
PubMed:
PMID:9683594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406526G>C , CM000663.2:g.2406526G>C | GRCh38 |
| NC_000001.10:g.2337965G>C , CM000663.1:g.2337965G>C | GRCh37 |
| NC_000001.9:g.2327825G>C | NCBI36 |
| NG_008342.1:g.11046C>G | |
| NG_016128.1:g.19752G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000288774.8:c.930C>G | ENSP00000288774.3:p.His310Gln | |
| ENST00000447513.7:c.870C>G MANE Select | ENSP00000407922.2:p.His290Gln | |
| ENST00000650293.1:c.824C>G | ||
| ENST00000288774.7:c.930C>G | ENSP00000288774.3:p.His310Gln | |
| ENST00000447513.6:c.870C>G | ENSP00000407922.2:p.His290Gln | |
| ENST00000507596.5:c.870C>G | ENSP00000424291.1:p.His290Gln | |
| ENST00000510434.1:c.*236C>G | ENSP00000423051.1:n.*236C>G | |
| NM_002617.3:c.870C>G | NP_002608.1:p.His290Gln | |
| NM_153818.1:c.930C>G | NP_722540.1:p.His310Gln | |
| XM_011541573.1:c.927C>G | XP_011539875.1:p.His309Gln | |
| XM_011541574.1:c.495C>G | XP_011539876.1:p.His165Gln | |
| XM_011541575.1:c.495C>G | XP_011539877.1:p.His165Gln | |
| XR_946666.1:n.986C>G | ||
| XR_946666.2:n.935C>G | ||
| NM_001374425.1:c.927C>G | NP_001361354.1:p.His309Gln | |
| NM_001374426.1:c.495C>G | NP_001361355.1:p.His165Gln | |
| NM_001374427.1:c.438C>G | NP_001361356.1:p.His146Gln | |
| NM_002617.4:c.870C>G MANE Select | NP_002608.1:p.His290Gln | |
| NM_153818.2:c.930C>G | NP_722540.1:p.His310Gln | |
| NR_164636.1:n.985C>G |