Linked Data
ClinVar Variation Id:
1053266
ClinVar RCV Id:
RCV001361588
dbSNP Id:
rs2140016054
gnomAD v4:
14-87976360-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87976360T>C , CM000676.2:g.87976360T>C | GRCh38 |
| NC_000014.8:g.88442704T>C , CM000676.1:g.88442704T>C | GRCh37 |
| NC_000014.7:g.87512457T>C | NCBI36 |
| NG_011853.2:g.22204A>G | |
| NG_011853.3:g.22204A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.750A>G MANE Select | ENSP00000261304.2:p.Ile250Met | |
| ENST00000261304.6:c.750A>G | ENSP00000261304.2:p.Ile250Met | |
| ENST00000393568.8:c.681A>G | ENSP00000377198.4:p.Ile227Met | |
| ENST00000393569.6:c.672A>G | ENSP00000377199.2:p.Ile224Met | |
| ENST00000474294.6:n.740A>G | ||
| ENST00000477716.3:n.505A>G | ||
| ENST00000544807.6:c.582A>G | ENSP00000437513.2:p.Ile194Met | |
| ENST00000554916.5:n.629A>G | ||
| ENST00000555000.5:c.117A>G | ENSP00000450472.1:p.Ile39Met | |
| ENST00000557316.5:c.*148A>G | ENSP00000452314.1:n.*148A>G | |
| ENST00000622264.4:c.740A>G | ||
| NM_000153.3:c.750A>G | NP_000144.2:p.Ile250Met | |
| NM_001201401.1:c.681A>G | NP_001188330.1:p.Ile227Met | |
| NM_001201402.1:c.672A>G | NP_001188331.1:p.Ile224Met | |
| XM_011536618.1:c.582A>G | XP_011534920.1:p.Ile194Met | |
| XM_011536618.2:c.582A>G | XP_011534920.1:p.Ile194Met | |
| NM_000153.4:c.750A>G MANE Select | NP_000144.2:p.Ile250Met | |
| NM_001201401.2:c.681A>G | NP_001188330.1:p.Ile227Met | |
| NM_001201402.2:c.672A>G | NP_001188331.1:p.Ile224Met |