Linked Data
ClinVar Variation Id:
190809
ClinVar RCV Id:
RCV000170975
dbSNP Id:
rs786205813
gnomAD v3:
17-70175275-T-C
gnomAD v4:
17-70175275-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175275T>C , CM000679.2:g.70175275T>C | GRCh38 |
| NC_000017.10:g.68171416T>C , CM000679.1:g.68171416T>C | GRCh37 |
| NC_000017.9:g.65683011T>C | NCBI36 |
| NG_008798.1:g.10741T>C , LRG_328:g.10741T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.236T>C MANE Select | ENSP00000243457.2:p.Ile79Thr | |
| ENST00000243457.3:c.236T>C | ENSP00000243457.2:p.Ile79Thr | |
| ENST00000535240.1:c.236T>C | ENSP00000441848.1:p.Ile79Thr | |
| NM_000891.2:c.236T>C , LRG_328t1:c.236T>C | NP_000882.1:p.Ile79Thr | |
| XM_011524779.1:c.236T>C | XP_011523081.1:p.Ile79Thr | |
| NM_000891.3:c.236T>C MANE Select | NP_000882.1:p.Ile79Thr |