Linked Data
ClinVar Variation Id:
96741
dbSNP Id:
rs147962513
ExAC:
12:52965165 A / G
gnomAD v2:
12-52965165-A-G
gnomAD v3:
12-52571381-A-G
gnomAD v4:
12-52571381-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52571381A>G , CM000674.2:g.52571381A>G | GRCh38 |
| NC_000012.11:g.52965165A>G , CM000674.1:g.52965165A>G | GRCh37 |
| NC_000012.10:g.51251432A>G | NCBI36 |
| NG_012321.1:g.7445T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305620.3:c.821T>C MANE Select | ENSP00000307240.2:p.Phe274Ser | |
| ENST00000305620.2:c.821T>C | ENSP00000307240.2:p.Phe274Ser | |
| ENST00000549343.5:c.821T>C | ENSP00000447447.1:p.Phe274Ser | |
| NM_175053.3:c.821T>C | NP_778223.2:p.Phe274Ser | |
| XM_011537902.1:c.821T>C | XP_011536204.1:p.Phe274Ser | |
| NM_175053.4:c.821T>C MANE Select | NP_778223.2:p.Phe274Ser |