Linked Data
ClinVar Variation Id:
864417
ClinVar RCV Id:
RCV001071606
dbSNP Id:
rs116840788
gnomAD v2:
3-8787228-T-C
gnomAD v4:
3-8745542-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745542T>C , CM000665.2:g.8745542T>C | GRCh38 |
| NC_000003.11:g.8787228T>C , CM000665.1:g.8787228T>C | GRCh37 |
| NC_000003.10:g.8762228T>C | NCBI36 |
| NG_008797.2:g.16733T>C , LRG_329:g.16733T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.131T>C MANE Select | ENSP00000341940.2:p.Val44Ala | |
| ENST00000343849.2:c.131T>C | ENSP00000341940.2:p.Val44Ala | |
| ENST00000397368.2:c.131T>C | ENSP00000380525.2:p.Val44Ala | |
| ENST00000472766.1:n.155+11552T>C | ||
| NM_001234.4:c.131T>C | NP_001225.1:p.Val44Ala | |
| NM_033337.2:c.131T>C , LRG_329t1:c.131T>C | NP_203123.1:p.Val44Ala | |
| NM_001234.5:c.131T>C | NP_001225.1:p.Val44Ala | |
| NM_033337.3:c.131T>C MANE Select | NP_203123.1:p.Val44Ala |