Linked Data
ClinVar Variation Id:
2189089
ClinVar RCV Id:
RCV002607094
dbSNP Id:
rs766459533
ExAC:
10:50679101 T / G
gnomAD v2:
10-50679101-T-G
gnomAD v3:
10-49471055-T-G
gnomAD v4:
10-49471055-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49471055T>G , CM000672.2:g.49471055T>G | GRCh38 |
| NC_000010.10:g.50679101T>G , CM000672.1:g.50679101T>G | GRCh37 |
| NC_000010.9:g.50349107T>G | NCBI36 |
| NG_009442.1:g.73047A>C , LRG_465:g.73047A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2990A>C MANE Select | ENSP00000348089.5:p.Lys997Thr | |
| ENST00000679552.1:n.142-166A>C | ||
| ENST00000679871.1:n.136A>C | ||
| ENST00000679974.1:n.120-166A>C | ||
| ENST00000681632.1:n.4393A>C | ||
| ENST00000681659.1:c.2831A>C | ENSP00000505631.1:p.Lys944Thr | |
| ENST00000355832.9:c.2990A>C | ENSP00000348089.5:p.Lys997Thr | |
| ENST00000623073.3:c.*1286A>C | ENSP00000485650.1:n.*1286A>C | |
| ENST00000623115.3:c.1100A>C | ENSP00000485321.1:p.Lys367Thr | |
| ENST00000624341.3:c.822A>C | ||
| NM_000124.3:c.2990A>C | NP_000115.1:p.Lys997Thr | |
| XR_945953.1:n.243-510T>G | ||
| NM_001346440.1:c.2990A>C | NP_001333369.1:p.Lys997Thr | |
| NM_000124.4:c.2990A>C MANE Select | NP_000115.1:p.Lys997Thr | |
| NM_001346440.2:c.2990A>C | NP_001333369.1:p.Lys997Thr |