Linked Data
ClinVar Variation Id:
254777
dbSNP Id:
rs16849700
ExAC:
3:165547973 C / G
gnomAD v2:
3-165547973-C-G
gnomAD v3:
3-165830185-C-G
gnomAD v4:
3-165830185-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830185C>G , CM000665.2:g.165830185C>G | GRCh38 |
| NC_000003.11:g.165547973C>G , CM000665.1:g.165547973C>G | GRCh37 |
| NC_000003.10:g.167030667C>G | NCBI36 |
| NG_009031.1:g.12281G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.849G>C MANE Select | ENSP00000264381.3:p.Glu283Asp | |
| ENST00000264381.7:c.849G>C | ENSP00000264381.3:p.Glu283Asp | |
| ENST00000479451.5:c.107+7129G>C | ENSP00000418325.1:n.107+7129G>C | |
| ENST00000482958.1:c.849G>C | ENSP00000419804.1:p.Glu283Asp | |
| ENST00000488954.1:c.107+7129G>C | ENSP00000418504.1:n.107+7129G>C | |
| ENST00000497011.5:c.849G>C | ENSP00000419505.1:p.Glu283Asp | |
| NM_000055.2:c.849G>C | NP_000046.1:p.Glu283Asp | |
| XM_005247685.1:c.972G>C | XP_005247742.1:p.Glu324Asp | |
| NM_000055.3:c.849G>C | NP_000046.1:p.Glu283Asp | |
| NR_137635.1:n.159+7129G>C | ||
| NR_137636.1:n.1016G>C | ||
| NM_000055.4:c.849G>C MANE Select | NP_000046.1:p.Glu283Asp | |
| NR_137635.2:n.110+7129G>C | ||
| NR_137636.2:n.967G>C |