Linked Data
ClinVar Variation Id:
1648
dbSNP Id:
rs267607111
gnomAD v3:
8-42839187-T-C
gnomAD v4:
8-42839187-T-C
PubMed:
PMID:19345147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42839187T>C , CM000670.2:g.42839187T>C | GRCh38 |
| NC_000008.10:g.42694330T>C , CM000670.1:g.42694330T>C | GRCh37 |
| NC_000008.9:g.42813487T>C | NCBI36 |
| NG_011837.1:g.9145A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254250.7:c.266A>G MANE Select | ENSP00000254250.3:p.Lys89Arg | |
| ENST00000345117.2:c.72-851A>G | ENSP00000344966.2:n.72-851A>G | |
| ENST00000529779.1:c.266A>G | ENSP00000433912.1:p.Lys89Arg | |
| NM_018105.2:c.266A>G | NP_060575.1:p.Lys89Arg | |
| NM_199003.1:c.72-851A>G | NP_945354.1:n.72-851A>G | |
| NM_018105.3:c.266A>G MANE Select | NP_060575.1:p.Lys89Arg | |
| NM_199003.2:c.72-851A>G | NP_945354.1:n.72-851A>G |