Linked Data
ClinVar Variation Id:
3071290
ClinVar RCV Id:
RCV004014792
dbSNP Id:
rs1377117160
gnomAD v4:
3-14141644-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141644T>C , CM000665.2:g.14141644T>C | GRCh38 |
| NC_000003.11:g.14183144T>C , CM000665.1:g.14183144T>C | GRCh37 |
| NC_000003.10:g.14158145T>C | NCBI36 |
| NG_008975.1:g.21705T>C , LRG_435:g.21705T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1082T>C | ENSP00000395617.1:n.*1082T>C | |
| ENST00000306077.5:c.1052T>C MANE Select | ENSP00000303992.5:p.Phe351Ser | |
| ENST00000306077.4:c.1052T>C | ENSP00000303992.4:p.Phe351Ser | |
| ENST00000601399.3:n.327+2347T>C | ||
| ENST00000608606.1:c.236+2347T>C | ||
| NM_024334.2:c.1052T>C , LRG_435t1:c.1052T>C | NP_077310.1:p.Phe351Ser | |
| XM_011534109.1:c.947T>C | XP_011532411.1:p.Phe316Ser | |
| XM_017007176.2:c.947T>C | XP_016862665.1:p.Phe316Ser | |
| NM_024334.3:c.1052T>C MANE Select | NP_077310.1:p.Phe351Ser |