Linked Data
ClinVar Variation Id:
1720
dbSNP Id:
rs10509305
ExAC:
10:70645376 A / C
gnomAD v2:
10-70645376-A-C
gnomAD v3:
10-68885620-A-C
gnomAD v4:
10-68885620-A-C
PubMed:
PMID:15806103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68885620A>C , CM000672.2:g.68885620A>C | GRCh38 |
| NC_000010.10:g.70645376A>C , CM000672.1:g.70645376A>C | GRCh37 |
| NC_000010.9:g.70315382A>C | NCBI36 |
| NG_012975.1:g.63083A>C | |
| NG_012975.2:g.63084A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298596.11:c.1824A>C MANE Select | ENSP00000298596.6:p.Glu608Asp | |
| ENST00000642869.1:c.2160A>C | ENSP00000494558.1:p.Glu720Asp | |
| ENST00000298596.10:c.1824A>C | ENSP00000298596.6:p.Glu608Asp | |
| ENST00000399162.2:c.463+3510A>C | ENSP00000382115.2:n.463+3510A>C | |
| ENST00000399165.8:c.663+1161A>C | ENSP00000382118.4:n.663+1161A>C | |
| ENST00000399169.8:c.1824A>C | ENSP00000382121.4:p.Glu608Asp | |
| NM_001130159.2:c.663+1161A>C | NP_001123631.1:n.663+1161A>C | |
| NM_001130160.2:c.463+3510A>C | NP_001123632.1:n.463+3510A>C | |
| NM_001130161.2:c.1824A>C | NP_001123633.1:p.Glu608Asp | |
| NM_152709.4:c.1824A>C | NP_689922.3:p.Glu608Asp | |
| XM_011539454.1:c.1494A>C | XP_011537756.1:p.Glu498Asp | |
| XM_011539454.2:c.1494A>C | XP_011537756.1:p.Glu498Asp | |
| NM_152709.5:c.1824A>C MANE Select | NP_689922.3:p.Glu608Asp | |
| NM_001130161.3:c.1824A>C | NP_001123633.1:p.Glu608Asp | |
| NM_001130159.3:c.663+1161A>C | NP_001123631.1:n.663+1161A>C | |
| NM_001130160.3:c.463+3510A>C | NP_001123632.1:n.463+3510A>C | |
| NM_001130161.4:c.1824A>C | NP_001123633.1:p.Glu608Asp |