Linked Data
ClinVar Variation Id:
1706136
ClinVar RCV Id:
RCV002284666
dbSNP Id:
rs1447067995
gnomAD v4:
17-70175647-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175647T>C , CM000679.2:g.70175647T>C | GRCh38 |
| NC_000017.10:g.68171788T>C , CM000679.1:g.68171788T>C | GRCh37 |
| NC_000017.9:g.65683383T>C | NCBI36 |
| NG_008798.1:g.11113T>C , LRG_328:g.11113T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.608T>C MANE Select | ENSP00000243457.2:p.Met203Thr | |
| ENST00000243457.3:c.608T>C | ENSP00000243457.2:p.Met203Thr | |
| ENST00000535240.1:c.608T>C | ENSP00000441848.1:p.Met203Thr | |
| NM_000891.2:c.608T>C , LRG_328t1:c.608T>C | NP_000882.1:p.Met203Thr | |
| XM_011524779.1:c.608T>C | XP_011523081.1:p.Met203Thr | |
| NM_000891.3:c.608T>C MANE Select | NP_000882.1:p.Met203Thr |