Linked Data
ClinVar Variation Id:
1060621
ClinVar RCV Id:
RCV001370078
dbSNP Id:
rs756875824
ExAC:
12:13906834 A / G
gnomAD v2:
12-13906834-A-G
gnomAD v3:
12-13753900-A-G
gnomAD v4:
12-13753900-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13753900A>G , CM000674.2:g.13753900A>G | GRCh38 |
| NC_000012.11:g.13906834A>G , CM000674.1:g.13906834A>G | GRCh37 |
| NC_000012.10:g.13798101A>G | NCBI36 |
| NG_031854.1:g.231189T>C | |
| NG_031854.2:g.233113T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.427T>C MANE Select | ENSP00000477455.1:p.Phe143Leu | |
| ENST00000630791.2:c.427T>C | ENSP00000486677.2:p.Phe143Leu | |
| ENST00000609686.3:c.427T>C | ENSP00000477455.1:p.Phe143Leu | |
| NM_000834.3:c.427T>C | NP_000825.2:p.Phe143Leu | |
| XM_011520628.1:c.427T>C | XP_011518930.1:p.Phe143Leu | |
| XM_011520629.1:c.427T>C | XP_011518931.1:p.Phe143Leu | |
| XM_011520630.1:c.427T>C | XP_011518932.1:p.Phe143Leu | |
| NM_000834.4:c.427T>C | NP_000825.2:p.Phe143Leu | |
| XM_011520628.2:c.427T>C | XP_011518930.1:p.Phe143Leu | |
| XM_011520629.2:c.427T>C | XP_011518931.1:p.Phe143Leu | |
| XM_017019219.2:c.427T>C | XP_016874708.1:p.Phe143Leu | |
| NM_000834.5:c.427T>C MANE Select | NP_000825.2:p.Phe143Leu |