Linked Data
ClinVar Variation Id:
91875
ClinVar RCV Id:
RCV000143849
dbSNP Id:
rs587779374
PubMed:
PMID:25155876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114673940G>A , CM000663.2:g.114673940G>A | GRCh38 |
| NC_000001.10:g.115216561G>A , CM000663.1:g.115216561G>A | GRCh37 |
| NC_000001.9:g.115018084G>A | NCBI36 |
| NG_008012.1:g.26616C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1931C>T | ENSP00000358551.4:p.Thr644Ile | |
| ENST00000520113.7:c.1943C>T MANE Select | ENSP00000430075.3:p.Thr648Ile | |
| ENST00000637080.1:c.1726C>T | ENSP00000489753.1:n.1726C>T | |
| ENST00000638214.1:n.1056C>T | ||
| ENST00000639077.1:n.1465C>T | ||
| ENST00000639274.1:n.573C>T | ||
| ENST00000369538.3:c.2030C>T | ENSP00000358551.3:p.Thr677Ile | |
| ENST00000520113.6:c.2042C>T | ENSP00000430075.2:p.Thr681Ile | |
| NM_000036.2:c.2042C>T | NP_000027.2:p.Thr681Ile | |
| NM_001172626.1:c.2030C>T | NP_001166097.1:p.Thr677Ile | |
| NM_000036.3:c.1943C>T MANE Select | NP_000027.3:p.Thr648Ile | |
| NM_001172626.2:c.1931C>T | NP_001166097.2:p.Thr644Ile |