Linked Data
ClinVar Variation Id:
755
ClinVar RCV Id:
RCV000000791
dbSNP Id:
rs118203903
PubMed:
PMID:18358451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232809731C>G , CM000664.2:g.232809731C>G | GRCh38 |
| NC_000002.11:g.233674441C>G , CM000664.1:g.233674441C>G | GRCh37 |
| NC_000002.10:g.233382685C>G | NCBI36 |
| NG_011847.1:g.117427C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373563.9:c.1818C>G MANE Select | ENSP00000362664.5:p.Asp606Glu | |
| ENST00000676848.1:c.1164C>G | ENSP00000503313.1:p.Asp388Glu | |
| ENST00000677450.1:c.1299C>G | ENSP00000503420.1:p.Asp433Glu | |
| ENST00000677591.1:c.1074C>G | ENSP00000503061.1:p.Asp358Glu | |
| ENST00000678230.1:c.1311C>G | ENSP00000504272.1:p.Asp437Glu | |
| ENST00000678339.1:c.1074C>G | ENSP00000503437.1:p.Asp358Glu | |
| ENST00000678466.1:c.1074C>G | ENSP00000504219.1:p.Asp358Glu | |
| ENST00000678885.1:c.1074C>G | ENSP00000503563.1:p.Asp358Glu | |
| ENST00000373563.8:c.1818C>G | ENSP00000362664.4:p.Asp606Glu | |
| ENST00000409196.7:c.1800C>G | ENSP00000387070.3:p.Asp600Glu | |
| ENST00000409451.7:c.1881C>G | ENSP00000387170.3:p.Asp627Glu | |
| ENST00000409480.5:c.1884C>G | ENSP00000386765.1:p.Asp628Glu | |
| ENST00000409547.5:c.1818C>G | ENSP00000386537.1:p.Asp606Glu | |
| ENST00000423659.5:c.1647C>G | ENSP00000404195.1:p.Asp549Glu | |
| ENST00000440945.5:c.1800C>G | ENSP00000410297.1:p.Asp600Glu | |
| ENST00000482952.5:n.56C>G | ||
| ENST00000629305.2:c.1884C>G | ENSP00000487548.1:p.Asp628Glu | |
| NM_001103146.1:c.1818C>G | NP_001096616.1:p.Asp606Glu | |
| NM_001103147.1:c.1881C>G | NP_001096617.1:p.Asp627Glu | |
| NM_001103148.1:c.1800C>G | NP_001096618.1:p.Asp600Glu | |
| NM_015575.3:c.1818C>G | NP_056390.2:p.Asp606Glu | |
| NR_103492.1:n.1931C>G | ||
| NM_001103146.3:c.1818C>G MANE Select | NP_001096616.1:p.Asp606Glu | |
| NM_001103147.2:c.1881C>G | NP_001096617.1:p.Asp627Glu | |
| NM_001103148.2:c.1800C>G | NP_001096618.1:p.Asp600Glu | |
| NM_015575.4:c.1818C>G | NP_056390.2:p.Asp606Glu |