Linked Data
ClinVar Variation Id:
18065
dbSNP Id:
rs5186
ExAC:
3:148459988 A / C
gnomAD v2:
3-148459988-A-C
gnomAD v3:
3-148742201-A-C
gnomAD v4:
3-148742201-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148742201A>C , CM000665.2:g.148742201A>C | GRCh38 |
| NC_000003.11:g.148459988A>C , CM000665.1:g.148459988A>C | GRCh37 |
| NC_000003.10:g.149942678A>C | NCBI36 |
| NG_008468.1:g.49331A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349243.8:c.*86A>C MANE Select | ENSP00000273430.3:n.*86A>C | |
| ENST00000402260.2:c.*86A>C | ENSP00000385641.3:n.*86A>C | |
| ENST00000418473.7:c.*86A>C | ENSP00000398832.4:n.*86A>C | |
| ENST00000349243.7:c.*86A>C | ENSP00000273430.3:n.*86A>C | |
| ENST00000402260.1:c.*86A>C | ENSP00000385641.2:n.*86A>C | |
| ENST00000404754.2:c.*86A>C | ENSP00000385612.2:n.*86A>C | |
| ENST00000418473.6:c.1271A>C | ENSP00000398832.3:n.1271A>C | |
| ENST00000461609.1:c.*86A>C | ENSP00000418851.1:n.*86A>C | |
| ENST00000474935.5:c.*86A>C | ENSP00000418084.1:n.*86A>C | |
| ENST00000475347.5:c.*86A>C | ENSP00000419783.1:n.*86A>C | |
| ENST00000497524.5:c.*86A>C | ENSP00000419422.1:n.*86A>C | |
| NM_000685.4:c.*86A>C | NP_000676.1:n.*86A>C | |
| NM_004835.4:c.*86A>C | NP_004826.5:n.*86A>C | |
| NM_009585.3:c.*86A>C | NP_033611.1:n.*86A>C | |
| NM_031850.3:c.*86A>C | NP_114038.4:n.*86A>C | |
| NM_032049.3:c.*86A>C | NP_114438.2:n.*86A>C | |
| NM_000685.5:c.*86A>C MANE Select | NP_000676.1:n.*86A>C | |
| NM_001382736.1:c.*86A>C | NP_001369665.1:n.*86A>C | |
| NM_001382737.1:c.*86A>C | NP_001369666.1:n.*86A>C | |
| NM_004835.5:c.*86A>C | NP_004826.6:n.*86A>C | |
| NM_009585.4:c.*86A>C | NP_033611.1:n.*86A>C | |
| NM_031850.4:c.*86A>C | NP_114038.5:n.*86A>C | |
| NM_032049.4:c.*86A>C | NP_114438.3:n.*86A>C |