Linked Data
ClinVar Variation Id:
309896
ClinVar RCV Id:
RCV000842026
dbSNP Id:
rs201016505
ExAC:
12:57422936 A / G
gnomAD v2:
12-57422936-A-G
gnomAD v3:
12-57029152-A-G
gnomAD v4:
12-57029152-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57029152A>G , CM000674.2:g.57029152A>G | GRCh38 |
| NC_000012.11:g.57422936A>G , CM000674.1:g.57422936A>G | GRCh37 |
| NC_000012.10:g.55709203A>G | NCBI36 |
| NG_012104.1:g.25958T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.2985T>C MANE Select | ENSP00000300119.3:p.Leu995= | |
| ENST00000300119.7:c.2985T>C | ENSP00000300119.3:p.Leu995= | |
| ENST00000442789.6:c.2985T>C | ENSP00000393392.2:p.Leu995= | |
| ENST00000554234.5:c.*430T>C | ENSP00000451033.1:n.*430T>C | |
| NM_001256041.1:c.2985T>C | NP_001242970.1:p.Leu995= | |
| NM_005379.3:c.2985T>C | NP_005370.1:p.Leu995= | |
| NM_005379.4:c.2985T>C MANE Select | NP_005370.1:p.Leu995= | |
| NM_001256041.2:c.2985T>C | NP_001242970.1:p.Leu995= |