Linked Data
ClinVar Variation Id:
847948
ClinVar RCV Id:
RCV001051596
dbSNP Id:
rs5030802
gnomAD v4:
3-10142055-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142055G>C , CM000665.2:g.10142055G>C | GRCh38 |
| NC_000003.11:g.10183739G>C , CM000665.1:g.10183739G>C | GRCh37 |
| NC_000003.10:g.10158739G>C | NCBI36 |
| NG_008212.3:g.5421G>C , LRG_322:g.5421G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.208G>C | ENSP00000512434.1:p.Glu70Gln | |
| ENST00000696143.1:c.208G>C | ENSP00000512435.1:p.Glu70Gln | |
| ENST00000696153.1:c.208G>C | ENSP00000512444.1:p.Glu70Gln | |
| ENST00000256474.3:c.208G>C MANE Select | ENSP00000256474.3:p.Glu70Gln | |
| ENST00000256474.2:c.208G>C | ENSP00000256474.2:p.Glu70Gln | |
| ENST00000345392.2:c.208G>C | ENSP00000344757.2:p.Glu70Gln | |
| NM_000551.3:c.208G>C , LRG_322t1:c.208G>C | NP_000542.1:p.Glu70Gln | |
| NM_198156.2:c.208G>C | NP_937799.1:p.Glu70Gln | |
| XM_011534078.1:c.208G>C | XP_011532380.1:p.Glu70Gln | |
| NM_001354723.1:c.208G>C | NP_001341652.1:p.Glu70Gln | |
| NM_000551.4:c.208G>C MANE Select | NP_000542.1:p.Glu70Gln | |
| NM_001354723.2:c.208G>C | NP_001341652.1:p.Glu70Gln | |
| NM_198156.3:c.208G>C | NP_937799.1:p.Glu70Gln |