Linked Data
ClinVar Variation Id:
228866
dbSNP Id:
rs876657870
gnomAD v2:
11-47359088-A-G
gnomAD v4:
11-47337537-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337537A>G , CM000673.2:g.47337537A>G | GRCh38 |
| NC_000011.9:g.47359088A>G , CM000673.1:g.47359088A>G | GRCh37 |
| NC_000011.8:g.47315664A>G | NCBI36 |
| NG_007667.1:g.20166T>C , LRG_386:g.20166T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2456T>C MANE Select | ENSP00000442795.1:p.Met819Thr | |
| ENST00000256993.8:c.2456T>C | ENSP00000256993.5:p.Met819Thr | |
| ENST00000399249.6:c.2456T>C | ENSP00000382193.2:p.Met819Thr | |
| ENST00000544791.1:c.2414-26T>C | ENSP00000444259.1:n.2414-26T>C | |
| ENST00000545968.5:c.2456T>C | ENSP00000442795.1:p.Met819Thr | |
| NM_000256.3:c.2456T>C , LRG_386t1:c.2456T>C MANE Select | NP_000247.2:p.Met819Thr | |
| XM_011520117.1:c.2438T>C | XP_011518419.1:p.Met813Thr | |
| XM_011520118.1:c.2375T>C | XP_011518420.1:p.Met792Thr |