Linked Data
ClinVar Variation Id:
42590
dbSNP Id:
rs397515941
gnomAD v2:
11-47361293-A-G
gnomAD v3:
11-47339742-A-G
gnomAD v4:
11-47339742-A-G
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47339742A>G , CM000673.2:g.47339742A>G | GRCh38 |
| NC_000011.9:g.47361293A>G , CM000673.1:g.47361293A>G | GRCh37 |
| NC_000011.8:g.47317869A>G | NCBI36 |
| NG_007667.1:g.17961T>C , LRG_386:g.17961T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1976T>C MANE Select | ENSP00000442795.1:p.Ile659Thr | |
| ENST00000256993.8:c.1976T>C | ENSP00000256993.5:p.Ile659Thr | |
| ENST00000399249.6:c.1976T>C | ENSP00000382193.2:p.Ile659Thr | |
| ENST00000544791.1:c.1976T>C | ENSP00000444259.1:p.Ile659Thr | |
| ENST00000545968.5:c.1976T>C | ENSP00000442795.1:p.Ile659Thr | |
| NM_000256.3:c.1976T>C , LRG_386t1:c.1976T>C MANE Select | NP_000247.2:p.Ile659Thr | |
| XM_011520117.1:c.1958T>C | XP_011518419.1:p.Ile653Thr | |
| XM_011520118.1:c.1976T>C | XP_011518420.1:p.Ile659Thr |