Linked Data
ClinVar Variation Id:
225302
dbSNP Id:
rs115624085
ExAC:
3:165547938 T / C
gnomAD v2:
3-165547938-T-C
gnomAD v3:
3-165830150-T-C
gnomAD v4:
3-165830150-T-C
PubMed:
PMID:9191541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830150T>C , CM000665.2:g.165830150T>C | GRCh38 |
| NC_000003.11:g.165547938T>C , CM000665.1:g.165547938T>C | GRCh37 |
| NC_000003.10:g.167030632T>C | NCBI36 |
| NG_009031.1:g.12316A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.884A>G MANE Select | ENSP00000264381.3:p.Lys295Arg | |
| ENST00000264381.7:c.884A>G | ENSP00000264381.3:p.Lys295Arg | |
| ENST00000479451.5:c.107+7164A>G | ENSP00000418325.1:n.107+7164A>G | |
| ENST00000482958.1:c.884A>G | ENSP00000419804.1:p.Lys295Arg | |
| ENST00000488954.1:c.107+7164A>G | ENSP00000418504.1:n.107+7164A>G | |
| ENST00000497011.5:c.884A>G | ENSP00000419505.1:p.Lys295Arg | |
| NM_000055.2:c.884A>G | NP_000046.1:p.Lys295Arg | |
| XM_005247685.1:c.1007A>G | XP_005247742.1:p.Lys336Arg | |
| NM_000055.3:c.884A>G | NP_000046.1:p.Lys295Arg | |
| NR_137635.1:n.159+7164A>G | ||
| NR_137636.1:n.1051A>G | ||
| NM_000055.4:c.884A>G MANE Select | NP_000046.1:p.Lys295Arg | |
| NR_137635.2:n.110+7164A>G | ||
| NR_137636.2:n.1002A>G |