Linked Data
ClinVar Variation Id:
5022
ClinVar RCV Id:
RCV000005325
dbSNP Id:
rs104894171
PubMed:
PMID:11297621
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87508507A>G , CM000672.2:g.87508507A>G | GRCh38 |
| NC_000010.10:g.89268264A>G , CM000672.1:g.89268264A>G | GRCh37 |
| NC_000010.9:g.89258244A>G | NCBI36 |
| NG_013023.1:g.9042A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371996.9:c.809A>G MANE Select | ENSP00000361064.4:p.Gln270Arg | |
| ENST00000371994.8:c.809A>G | ENSP00000361062.4:p.Gln270Arg | |
| ENST00000371996.8:c.809A>G | ENSP00000361064.4:p.Gln270Arg | |
| ENST00000536010.1:c.206A>G | ENSP00000437823.1:p.Gln69Arg | |
| NM_001178117.1:c.809A>G | NP_001171588.1:p.Gln270Arg | |
| NM_001178118.1:c.206A>G | NP_001171589.1:p.Gln69Arg | |
| NM_004897.4:c.809A>G | NP_004888.2:p.Gln270Arg | |
| XM_006718078.2:c.809A>G | XP_006718141.1:p.Gln270Arg | |
| XM_011540379.1:c.206A>G | XP_011538681.1:p.Gln69Arg | |
| XR_945884.1:n.2933A>G | ||
| XM_006718078.3:c.809A>G | XP_006718141.1:p.Gln270Arg | |
| XM_011540379.3:c.206A>G | XP_011538681.1:p.Gln69Arg | |
| XM_017016965.2:c.809A>G | XP_016872454.1:p.Gln270Arg | |
| NM_004897.5:c.809A>G MANE Select | NP_004888.2:p.Gln270Arg | |
| NM_001178117.2:c.809A>G | NP_001171588.1:p.Gln270Arg | |
| NM_001178118.2:c.206A>G | NP_001171589.1:p.Gln69Arg |