Linked Data
ClinVar Variation Id:
160157
dbSNP Id:
rs697624
ExAC:
12:49579696 C / G
gnomAD v2:
12-49579696-C-G
gnomAD v3:
12-49185913-C-G
gnomAD v4:
12-49185913-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185913C>G , CM000674.2:g.49185913C>G | GRCh38 |
| NC_000012.11:g.49579696C>G , CM000674.1:g.49579696C>G | GRCh37 |
| NC_000012.10:g.47865963C>G | NCBI36 |
| NG_008966.1:g.8166G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.453G>C MANE Select | ENSP00000301071.7:p.Ser151= | |
| ENST00000547939.6:c.348G>C | ENSP00000450268.2:p.Ser116= | |
| ENST00000550767.6:c.348G>C | ENSP00000446637.1:p.Ser116= | |
| ENST00000550811.2:n.1486G>C | ||
| ENST00000552924.2:c.348G>C | ENSP00000448725.2:p.Ser116= | |
| ENST00000679733.1:c.476G>C | ENSP00000505459.1:p.Arg159Pro | |
| ENST00000295766.9:c.453G>C | ENSP00000439020.2:p.Ser151= | |
| ENST00000301071.11:c.453G>C | ENSP00000301071.7:p.Ser151= | |
| ENST00000546918.1:c.605G>C | ENSP00000446613.1:p.Arg202Pro | |
| ENST00000547939.5:c.348G>C | ENSP00000450268.1:p.Ser116= | |
| ENST00000550767.5:c.348G>C | ENSP00000446637.1:p.Ser116= | |
| NM_001270399.1:c.453G>C | NP_001257328.1:p.Ser151= | |
| NM_001270400.1:c.348G>C | NP_001257329.1:p.Ser116= | |
| NM_006009.3:c.453G>C | NP_006000.2:p.Ser151= | |
| NM_006009.4:c.453G>C MANE Select | NP_006000.2:p.Ser151= | |
| NM_001270399.2:c.453G>C | NP_001257328.1:p.Ser151= | |
| NM_001270400.2:c.348G>C | NP_001257329.1:p.Ser116= |