Linked Data
ClinVar Variation Id:
942943
dbSNP Id:
rs565997790
gnomAD v2:
3-14183150-T-C
gnomAD v3:
3-14141650-T-C
gnomAD v4:
3-14141650-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141650T>C , CM000665.2:g.14141650T>C | GRCh38 |
| NC_000003.11:g.14183150T>C , CM000665.1:g.14183150T>C | GRCh37 |
| NC_000003.10:g.14158151T>C | NCBI36 |
| NG_008975.1:g.21711T>C , LRG_435:g.21711T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1088T>C | ENSP00000395617.1:n.*1088T>C | |
| ENST00000306077.5:c.1058T>C MANE Select | ENSP00000303992.5:p.Phe353Ser | |
| ENST00000306077.4:c.1058T>C | ENSP00000303992.4:p.Phe353Ser | |
| ENST00000601399.3:n.327+2353T>C | ||
| ENST00000608606.1:c.236+2353T>C | ||
| NM_024334.2:c.1058T>C , LRG_435t1:c.1058T>C | NP_077310.1:p.Phe353Ser | |
| XM_011534109.1:c.953T>C | XP_011532411.1:p.Phe318Ser | |
| XM_017007176.2:c.953T>C | XP_016862665.1:p.Phe318Ser | |
| NM_024334.3:c.1058T>C MANE Select | NP_077310.1:p.Phe353Ser |