Linked Data
ClinVar Variation Id:
4660
ClinVar RCV Id:
RCV000004923
RCV000198737
RCV001098679
RCV001173590
RCV001269366
RCV003237410
RCV004018562
dbSNP Id:
rs121908162
ExAC:
1:10384896 C / T
gnomAD v2:
1-10384896-C-T
gnomAD v3:
1-10324838-C-T
gnomAD v4:
1-10324838-C-T
PubMed:
PMID:18334619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10324838C>T , CM000663.2:g.10324838C>T | GRCh38 |
| NC_000001.10:g.10384896C>T , CM000663.1:g.10384896C>T | GRCh37 |
| NC_000001.9:g.10307483C>T | NCBI36 |
| NG_008069.1:g.119133C>T , LRG_252:g.119133C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.2480C>T | ENSP00000512668.1:p.Thr827Ile | |
| ENST00000696503.1:c.2543C>T | ENSP00000512669.1:p.Thr848Ile | |
| ENST00000696504.1:c.2543C>T | ENSP00000512670.1:p.Thr848Ile | |
| ENST00000676179.1:c.2618C>T MANE Select | ENSP00000502065.1:p.Thr873Ile | |
| ENST00000263934.10:c.2480C>T | ENSP00000263934.6:p.Thr827Ile | |
| ENST00000377081.5:c.2618C>T | ENSP00000366284.1:p.Thr873Ile | |
| ENST00000377086.5:c.2618C>T | ENSP00000366290.1:p.Thr873Ile | |
| ENST00000620295.2:c.2576C>T | ENSP00000478500.1:p.Thr859Ile | |
| ENST00000622724.3:c.2540C>T | ENSP00000480063.1:p.Thr847Ile | |
| NM_015074.3:c.2480C>T , LRG_252t1:c.2480C>T | NP_055889.2:p.Thr827Ile | |
| NM_001365951.1:c.2618C>T | NP_001352880.1:p.Thr873Ile | |
| NM_001365952.1:c.2618C>T | NP_001352881.1:p.Thr873Ile | |
| NM_001365951.3:c.2618C>T MANE Select | NP_001352880.1:p.Thr873Ile |