Linked Data
ClinVar Variation Id:
2260856
ClinVar RCV Id:
RCV004115662
dbSNP Id:
rs762120399
ExAC:
11:67353869 G / A
gnomAD v2:
11-67353869-G-A
gnomAD v3:
11-67586398-G-A
gnomAD v4:
11-67586398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586398G>A , CM000673.2:g.67586398G>A | GRCh38 |
| NC_000011.9:g.67353869G>A , CM000673.1:g.67353869G>A | GRCh37 |
| NC_000011.8:g.67110445G>A | NCBI36 |
| NG_012075.1:g.7804G>A , LRG_723:g.7804G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.346G>A | ENSP00000381604.1:p.Ala116Thr | |
| ENST00000398606.10:c.454G>A MANE Select | ENSP00000381607.3:p.Ala152Thr | |
| ENST00000646888.1:c.*170G>A | ENSP00000494477.1:n.*170G>A | |
| ENST00000398603.5:c.346G>A | ENSP00000381604.1:p.Ala116Thr | |
| ENST00000398606.7:c.454G>A | ENSP00000381607.3:p.Ala152Thr | |
| ENST00000467591.1:n.565G>A | ||
| ENST00000494593.1:n.1426G>A | ||
| ENST00000495996.1:c.180G>A | ENSP00000484686.1:p.Ser60= | |
| ENST00000498765.5:c.517G>A | ||
| NM_000852.3:c.454G>A , LRG_723t1:c.454G>A | NP_000843.1:p.Ala152Thr | |
| NM_000852.4:c.454G>A MANE Select | NP_000843.1:p.Ala152Thr |