Linked Data
ClinVar Variation Id:
2730912
ClinVar RCV Id:
RCV003588330
dbSNP Id:
rs767840321
ExAC:
11:68574971 C / G
gnomAD v2:
11-68574971-C-G
gnomAD v3:
11-68807503-C-G
gnomAD v4:
11-68807503-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68807503C>G , CM000673.2:g.68807503C>G | GRCh38 |
| NC_000011.9:g.68574971C>G , CM000673.1:g.68574971C>G | GRCh37 |
| NC_000011.8:g.68331547C>G | NCBI36 |
| NG_011801.1:g.39429G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.417G>C MANE Select | ENSP00000265641.4:p.Glu139Asp | |
| ENST00000265641.9:c.417G>C | ENSP00000265641.4:p.Glu139Asp | |
| ENST00000376618.6:c.417G>C | ENSP00000365803.2:p.Glu139Asp | |
| ENST00000539743.5:c.417G>C | ENSP00000446108.1:p.Glu139Asp | |
| ENST00000540367.5:c.417G>C | ENSP00000439084.1:p.Glu139Asp | |
| NM_001031847.2:c.417G>C | NP_001027017.1:p.Glu139Asp | |
| NM_001876.3:c.417G>C | NP_001867.2:p.Glu139Asp | |
| XM_005273762.1:c.513G>C | XP_005273819.1:p.Glu171Asp | |
| XM_005273763.1:c.513G>C | XP_005273820.1:p.Glu171Asp | |
| XM_005273762.3:c.513G>C | XP_005273819.1:p.Glu171Asp | |
| XM_017017220.1:c.417G>C | XP_016872709.1:p.Glu139Asp | |
| NM_001876.4:c.417G>C MANE Select | NP_001867.2:p.Glu139Asp | |
| NM_001031847.3:c.417G>C | NP_001027017.1:p.Glu139Asp |