Linked Data
ClinVar Variation Id:
1693625
ClinVar RCV Id:
RCV002261494
dbSNP Id:
rs2140001597
gnomAD v4:
14-87968396-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87968396T>C , CM000676.2:g.87968396T>C | GRCh38 |
| NC_000014.8:g.88434740T>C , CM000676.1:g.88434740T>C | GRCh37 |
| NC_000014.7:g.87504493T>C | NCBI36 |
| NG_011853.2:g.30168A>G | |
| NG_011853.3:g.30168A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.847A>G MANE Select | ENSP00000261304.2:p.Met283Val | |
| ENST00000261304.6:c.847A>G | ENSP00000261304.2:p.Met283Val | |
| ENST00000393568.8:c.778A>G | ENSP00000377198.4:p.Met260Val | |
| ENST00000393569.6:c.769A>G | ENSP00000377199.2:p.Met257Val | |
| ENST00000474294.6:n.837A>G | ||
| ENST00000477716.3:n.602A>G | ||
| ENST00000544807.6:c.679A>G | ENSP00000437513.2:p.Met227Val | |
| ENST00000555000.5:c.214A>G | ENSP00000450472.1:p.Met72Val | |
| ENST00000557316.5:c.*245A>G | ENSP00000452314.1:n.*245A>G | |
| ENST00000622264.4:c.837A>G | ||
| NM_000153.3:c.847A>G | NP_000144.2:p.Met283Val | |
| NM_001201401.1:c.778A>G | NP_001188330.1:p.Met260Val | |
| NM_001201402.1:c.769A>G | NP_001188331.1:p.Met257Val | |
| XM_011536618.1:c.679A>G | XP_011534920.1:p.Met227Val | |
| XM_011536618.2:c.679A>G | XP_011534920.1:p.Met227Val | |
| NM_000153.4:c.847A>G MANE Select | NP_000144.2:p.Met283Val | |
| NM_001201401.2:c.778A>G | NP_001188330.1:p.Met260Val | |
| NM_001201402.2:c.769A>G | NP_001188331.1:p.Met257Val |