Linked Data
ClinVar Variation Id:
164578
dbSNP Id:
rs79857347
ExAC:
12:57423002 G / A
gnomAD v2:
12-57423002-G-A
gnomAD v3:
12-57029218-G-A
gnomAD v4:
12-57029218-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57029218G>A , CM000674.2:g.57029218G>A | GRCh38 |
| NC_000012.11:g.57423002G>A , CM000674.1:g.57423002G>A | GRCh37 |
| NC_000012.10:g.55709269G>A | NCBI36 |
| NG_012104.1:g.25892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.2919C>T MANE Select | ENSP00000300119.3:p.Ser973= | |
| ENST00000300119.7:c.2919C>T | ENSP00000300119.3:p.Ser973= | |
| ENST00000442789.6:c.2919C>T | ENSP00000393392.2:p.Ser973= | |
| ENST00000554234.5:c.*364C>T | ENSP00000451033.1:n.*364C>T | |
| NM_001256041.1:c.2919C>T | NP_001242970.1:p.Ser973= | |
| NM_005379.3:c.2919C>T | NP_005370.1:p.Ser973= | |
| NM_005379.4:c.2919C>T MANE Select | NP_005370.1:p.Ser973= | |
| NM_001256041.2:c.2919C>T | NP_001242970.1:p.Ser973= |