Linked Data
ClinVar Variation Id:
723720
ClinVar RCV Id:
RCV000897516
dbSNP Id:
rs778513629
ExAC:
10:94397272 C / T
gnomAD v2:
10-94397272-C-T
gnomAD v3:
10-92637515-C-T
gnomAD v4:
10-92637515-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637515C>T , CM000672.2:g.92637515C>T | GRCh38 |
| NC_000010.10:g.94397272C>T , CM000672.1:g.94397272C>T | GRCh37 |
| NC_000010.9:g.94387252C>T | NCBI36 |
| NG_032580.1:g.49448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2130C>T MANE Select | ENSP00000260731.3:p.Asp710= | |
| ENST00000676621.1:c.*648C>T | ENSP00000503639.1:n.*648C>T | |
| ENST00000676647.1:c.1923C>T | ENSP00000503394.1:p.Asp641= | |
| ENST00000676757.1:c.1923C>T | ENSP00000504289.1:p.Asp641= | |
| ENST00000677720.1:c.*104C>T | ENSP00000504840.1:n.*104C>T | |
| ENST00000260731.4:c.2130C>T | ENSP00000260731.3:p.Asp710= | |
| NM_004523.3:c.2130C>T | NP_004514.2:p.Asp710= | |
| NM_004523.4:c.2130C>T MANE Select | NP_004514.2:p.Asp710= |