Linked Data
ClinVar Variation Id:
281116
ClinVar RCV Id:
RCV000558978
RCV000723677
RCV000789696
RCV001157494
RCV001157495
RCV001706410
RCV002379107
RCV003319193
dbSNP Id:
rs200967041
ExAC:
5:148407997 G / A
gnomAD v2:
5-148407997-G-A
gnomAD v3:
5-149028434-G-A
gnomAD v4:
5-149028434-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149028434G>A , CM000667.2:g.149028434G>A | GRCh38 |
| NC_000005.9:g.148407997G>A , CM000667.1:g.148407997G>A | GRCh37 |
| NC_000005.8:g.148388190G>A | NCBI36 |
| NG_007947.2:g.39741C>T , LRG_269:g.39741C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1318C>T | ||
| ENST00000515425.6:c.1298C>T MANE Select | ENSP00000423660.1:p.Ser433Leu | |
| ENST00000675793.1:c.*582C>T | ENSP00000502039.1:n.*582C>T | |
| ENST00000676056.1:c.*808C>T | ENSP00000501827.1:n.*808C>T | |
| ENST00000323829.9:c.*686C>T | ENSP00000313025.5:n.*686C>T | |
| ENST00000504517.5:c.828C>T | ENSP00000421779.1:n.828C>T | |
| ENST00000504690.5:c.1298C>T | ENSP00000425627.1:p.Ser433Leu | |
| ENST00000510779.1:c.348C>T | ||
| ENST00000511307.5:c.*1078C>T | ENSP00000421420.1:n.*1078C>T | |
| ENST00000512049.5:c.1277C>T | ENSP00000421860.1:p.Ser426Leu | |
| ENST00000513340.1:n.672C>T | ||
| ENST00000513604.5:c.*686C>T | ENSP00000423111.1:n.*686C>T | |
| ENST00000515425.5:c.1298C>T | ENSP00000423660.1:p.Ser433Leu | |
| NM_024577.3:c.1298C>T , LRG_269t1:c.1298C>T | NP_078853.2:p.Ser433Leu | |
| NM_024577.4:c.1298C>T MANE Select | NP_078853.2:p.Ser433Leu |