Linked Data
ClinVar Variation Id:
98511
ClinVar RCV Id:
RCV000084802
dbSNP Id:
rs367543209
ExAC:
19:54395081 T / C
gnomAD v4:
19-53891827-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53891827T>C , CM000681.2:g.53891827T>C | GRCh38 |
| NC_000019.9:g.54395081T>C , CM000681.1:g.54395081T>C | GRCh37 |
| NC_000019.8:g.59086893T>C | NCBI36 |
| NG_009114.1:g.14615T>C , LRG_669:g.14615T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.683T>C | ENSP00000507230.1:p.Val228Ala | |
| ENST00000682268.1:n.981T>C | ||
| ENST00000682902.1:n.985T>C | ||
| ENST00000683513.1:c.683T>C | ENSP00000506809.1:p.Val228Ala | |
| ENST00000263431.4:c.683T>C MANE Select | ENSP00000263431.3:p.Val228Ala | |
| ENST00000263431.3:c.683T>C | ENSP00000263431.3:p.Val228Ala | |
| ENST00000474397.5:c.299T>C | ||
| NM_001316329.1:c.683T>C | NP_001303258.1:p.Val228Ala | |
| NM_002739.3:c.683T>C , LRG_669t1:c.683T>C | NP_002730.1:p.Val228Ala | |
| NM_002739.4:c.683T>C | NP_002730.1:p.Val228Ala | |
| NM_002739.5:c.683T>C MANE Select | NP_002730.1:p.Val228Ala | |
| NM_001316329.2:c.683T>C | NP_001303258.1:p.Val228Ala |