Linked Data
ClinVar Variation Id:
95528
dbSNP Id:
rs116660078
ExAC:
1:63894794 T / C
gnomAD v2:
1-63894794-T-C
gnomAD v3:
1-63429123-T-C
gnomAD v4:
1-63429123-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63429123T>C , CM000663.2:g.63429123T>C | GRCh38 |
| NC_000001.10:g.63894794T>C , CM000663.1:g.63894794T>C | GRCh37 |
| NC_000001.9:g.63667382T>C | NCBI36 |
| NG_008925.2:g.66534T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263440.6:c.1323T>C MANE Select | ENSP00000263440.5:p.Tyr441= | |
| ENST00000494765.2:n.671T>C | ||
| ENST00000603108.6:c.*472T>C | ENSP00000473934.2:n.*472T>C | |
| ENST00000647818.1:c.*629T>C | ENSP00000497667.1:n.*629T>C | |
| ENST00000648964.1:c.*1052T>C | ENSP00000497828.1:n.*1052T>C | |
| ENST00000649570.1:c.*745T>C | ENSP00000497742.1:n.*745T>C | |
| ENST00000263440.4:c.1329T>C | ENSP00000263440.4:p.Tyr443= | |
| ENST00000371108.8:c.1323T>C | ENSP00000360149.4:p.Tyr441= | |
| ENST00000462390.1:n.312T>C | ||
| ENST00000465969.5:n.912T>C | ||
| ENST00000494765.1:n.886T>C | ||
| ENST00000603108.5:c.*401T>C | ENSP00000473934.1:n.*401T>C | |
| NM_013339.3:c.1323T>C | NP_037471.2:p.Tyr441= | |
| NM_013339.4:c.1323T>C MANE Select | NP_037471.2:p.Tyr441= |