Linked Data
ClinVar Variation Id:
298923
ClinVar RCV Id:
RCV000322635
dbSNP Id:
rs563491571
gnomAD v2:
10-115348363-C-T
gnomAD v3:
10-113588604-C-T
gnomAD v4:
10-113588604-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588604C>T , CM000672.2:g.113588604C>T | GRCh38 |
| NC_000010.10:g.115348363C>T , CM000672.1:g.115348363C>T | GRCh37 |
| NC_000010.9:g.115338353C>T | NCBI36 |
| NG_008956.1:g.40586C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.*235C>T MANE Select | ENSP00000277903.4:n.*235C>T | |
| ENST00000351270.3:c.*235C>T | ENSP00000277903.4:n.*235C>T | |
| ENST00000542051.5:c.*235C>T | ENSP00000443283.1:n.*235C>T | |
| NM_001177660.1:c.*235C>T | NP_001171131.1:n.*235C>T | |
| NM_004132.3:c.*235C>T | NP_004123.1:n.*235C>T | |
| NM_001177660.2:c.*235C>T | NP_001171131.1:n.*235C>T | |
| NM_004132.4:c.*235C>T | NP_004123.1:n.*235C>T | |
| NM_004132.5:c.*235C>T MANE Select | NP_004123.1:n.*235C>T | |
| NM_001177660.3:c.*235C>T | NP_001171131.1:n.*235C>T |