Linked Data
ClinVar Variation Id:
734
ClinVar RCV Id:
RCV000000770
RCV000039375
RCV000183944
RCV000588763
RCV000621202
RCV001254741
RCV001181315
RCV001375655
dbSNP Id:
rs63750743
gnomAD v4:
3-14141665-C-T
COSMIC:
COSM4908435
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141665C>T , CM000665.2:g.14141665C>T | GRCh38 |
| NC_000003.11:g.14183165C>T , CM000665.1:g.14183165C>T | GRCh37 |
| NC_000003.10:g.14158166C>T | NCBI36 |
| NG_008975.1:g.21726C>T , LRG_435:g.21726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1103C>T | ENSP00000395617.1:n.*1103C>T | |
| ENST00000306077.5:c.1073C>T MANE Select | ENSP00000303992.5:p.Ser358Leu | |
| ENST00000306077.4:c.1073C>T | ENSP00000303992.4:p.Ser358Leu | |
| ENST00000601399.3:n.327+2368C>T | ||
| ENST00000608606.1:c.236+2368C>T | ||
| NM_024334.2:c.1073C>T , LRG_435t1:c.1073C>T | NP_077310.1:p.Ser358Leu | |
| XM_011534109.1:c.968C>T | XP_011532411.1:p.Ser323Leu | |
| XM_017007176.2:c.968C>T | XP_016862665.1:p.Ser323Leu | |
| NM_024334.3:c.1073C>T MANE Select | NP_077310.1:p.Ser358Leu |