Linked Data
ClinVar Variation Id:
2760091
ClinVar RCV Id:
RCV003571997
dbSNP Id:
rs200836945
ExAC:
17:39740058 A / G
gnomAD v2:
17-39740058-A-G
gnomAD v3:
17-41583806-A-G
gnomAD v4:
17-41583806-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583806A>G , CM000679.2:g.41583806A>G | GRCh38 |
| NC_000017.10:g.39740058A>G , CM000679.1:g.39740058A>G | GRCh37 |
| NC_000017.9:g.36993584A>G | NCBI36 |
| NG_008624.1:g.8090T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.881T>C MANE Select | ENSP00000167586.6:p.Met294Thr | |
| ENST00000167586.6:c.881T>C | ENSP00000167586.6:p.Met294Thr | |
| ENST00000476662.1:n.331T>C | ||
| NM_000526.4:c.881T>C | NP_000517.2:p.Met294Thr | |
| NM_000526.5:c.881T>C MANE Select | NP_000517.3:p.Met294Thr |