Linked Data
ClinVar Variation Id:
2630040
ClinVar RCV Id:
RCV003391321
dbSNP Id:
rs2040122567
gnomAD v3:
16-1510974-C-G
gnomAD v4:
16-1510974-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1510974C>G , CM000678.2:g.1510974C>G | GRCh38 |
| NC_000016.9:g.1560975C>G , CM000678.1:g.1560975C>G | GRCh37 |
| NC_000016.8:g.1500976C>G | NCBI36 |
| NG_032783.1:g.106135G>C | |
| NG_050910.1:g.22631C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4359G>C MANE Select | ENSP00000406012.2:p.Glu1453Asp | |
| ENST00000361339.9:c.1941G>C | ENSP00000354895.5:p.Glu647Asp | |
| ENST00000397417.6:c.*2797G>C | ENSP00000380562.2:n.*2797G>C | |
| ENST00000426508.6:c.4359G>C | ENSP00000406012.2:p.Glu1453Asp | |
| ENST00000565298.5:n.4183G>C | ||
| NM_014714.3:c.4359G>C | NP_055529.2:p.Glu1453Asp | |
| XM_006720989.2:c.4359G>C | XP_006721052.1:p.Glu1453Asp | |
| XM_006720990.2:c.4359G>C | XP_006721053.1:p.Glu1453Asp | |
| XM_006720991.2:c.4359G>C | XP_006721054.1:p.Glu1453Asp | |
| XM_006720992.2:c.1992G>C | XP_006721055.1:p.Glu664Asp | |
| XM_011522766.1:c.4113G>C | XP_011521068.1:p.Glu1371Asp | |
| XM_011522767.1:c.3384G>C | XP_011521069.1:p.Glu1128Asp | |
| XM_006720990.3:c.4359G>C | XP_006721053.1:p.Glu1453Asp | |
| XM_006720991.3:c.4359G>C | XP_006721054.1:p.Glu1453Asp | |
| XM_006720992.3:c.1992G>C | XP_006721055.1:p.Glu664Asp | |
| XM_011522766.3:c.4113G>C | XP_011521068.1:p.Glu1371Asp | |
| XM_011522767.2:c.3384G>C | XP_011521069.1:p.Glu1128Asp | |
| XM_017023910.1:c.4359G>C | XP_016879399.1:p.Glu1453Asp | |
| XM_017023911.1:c.2544G>C | XP_016879400.1:p.Glu848Asp | |
| NM_014714.4:c.4359G>C MANE Select | NP_055529.2:p.Glu1453Asp |