Linked Data
ClinVar Variation Id:
218986
dbSNP Id:
rs864309733
gnomAD v3:
6-49457923-A-G
gnomAD v4:
6-49457923-A-G
PubMed:
PMID:20301409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457923A>G , CM000668.2:g.49457923A>G | GRCh38 |
| NC_000006.11:g.49425636A>G , CM000668.1:g.49425636A>G | GRCh37 |
| NC_000006.10:g.49533595A>G | NCBI36 |
| NG_007100.1:g.10217T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.521T>C MANE Select | ENSP00000274813.3:p.Phe174Ser | |
| ENST00000274813.3:c.521T>C | ENSP00000274813.3:p.Phe174Ser | |
| NM_000255.3:c.521T>C | NP_000246.2:p.Phe174Ser | |
| XM_005249143.2:c.521T>C | XP_005249200.1:p.Phe174Ser | |
| XM_005249143.3:c.521T>C | XP_005249200.1:p.Phe174Ser | |
| NM_000255.4:c.521T>C MANE Select | NP_000246.2:p.Phe174Ser |