Linked Data
ClinVar Variation Id:
8293
ClinVar RCV Id:
RCV000008790
RCV000008791
RCV000024406
RCV000039801
RCV000168328
RCV000242756
RCV000769173
RCV000987088
RCV001144019
RCV003924817
dbSNP Id:
rs72546668
ExAC:
3:8787330 C / T
gnomAD v2:
3-8787330-C-T
gnomAD v3:
3-8745644-C-T
gnomAD v4:
3-8745644-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745644C>T , CM000665.2:g.8745644C>T | GRCh38 |
| NC_000003.11:g.8787330C>T , CM000665.1:g.8787330C>T | GRCh37 |
| NC_000003.10:g.8762330C>T | NCBI36 |
| NG_008797.2:g.16835C>T , LRG_329:g.16835C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.233C>T MANE Select | ENSP00000341940.2:p.Thr78Met | |
| ENST00000343849.2:c.233C>T | ENSP00000341940.2:p.Thr78Met | |
| ENST00000397368.2:c.233C>T | ENSP00000380525.2:p.Thr78Met | |
| ENST00000472766.1:n.155+11654C>T | ||
| NM_001234.4:c.233C>T | NP_001225.1:p.Thr78Met | |
| NM_033337.2:c.233C>T , LRG_329t1:c.233C>T | NP_203123.1:p.Thr78Met | |
| NM_001234.5:c.233C>T | NP_001225.1:p.Thr78Met | |
| NM_033337.3:c.233C>T MANE Select | NP_203123.1:p.Thr78Met |