Linked Data
ClinVar Variation Id:
1079654
ClinVar RCV Id:
RCV001395042
dbSNP Id:
rs781197929
ExAC:
11:112099392 T / C
gnomAD v2:
11-112099392-T-C
gnomAD v4:
11-112228669-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112228669T>C , CM000673.2:g.112228669T>C | GRCh38 |
| NC_000011.9:g.112099392T>C , CM000673.1:g.112099392T>C | GRCh37 |
| NC_000011.8:g.111604602T>C | NCBI36 |
| NG_008743.1:g.7305T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280362.8:c.159T>C MANE Select | ENSP00000280362.3:p.Tyr53= | |
| ENST00000280362.7:c.159T>C | ENSP00000280362.3:p.Tyr53= | |
| ENST00000524931.1:c.-46T>C | ENSP00000434688.1:n.-46T>C | |
| ENST00000525645.1:n.234T>C | ||
| ENST00000525803.1:c.159T>C | ENSP00000431750.1:p.Tyr53= | |
| ENST00000528679.5:c.159T>C | ENSP00000435895.1:p.Tyr53= | |
| ENST00000531673.5:c.159T>C | ENSP00000433469.1:p.Tyr53= | |
| NM_000317.2:c.159T>C | NP_000308.1:p.Tyr53= | |
| NM_000317.3:c.159T>C MANE Select | NP_000308.1:p.Tyr53= |