Linked Data
ClinVar Variation Id:
3121398
ClinVar RCV Id:
RCV004408256
dbSNP Id:
rs146189965
ExAC:
19:17396272 C / T
gnomAD v2:
19-17396272-C-T
gnomAD v3:
19-17285463-C-T
gnomAD v4:
19-17285463-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17285463C>T , CM000681.2:g.17285463C>T | GRCh38 |
| NC_000019.9:g.17396272C>T , CM000681.1:g.17396272C>T | GRCh37 |
| NC_000019.8:g.17257272C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404085.7:c.1409C>T MANE Select | ENSP00000384008.3:p.Ser470Leu | |
| ENST00000404261.9:c.1153C>T | ENSP00000384753.6:p.His385Tyr | |
| ENST00000594072.6:c.1331C>T | ENSP00000468845.4:p.Ser444Leu | |
| ENST00000651416.1:n.1548C>T | ||
| ENST00000652132.1:c.1298C>T | ENSP00000498416.1:p.Ser433Leu | |
| ENST00000394458.7:c.1571C>T | ENSP00000377971.4:p.Ser524Leu | |
| ENST00000404085.5:c.*1230C>T | ENSP00000384008.2:n.*1230C>T | |
| ENST00000404261.8:c.1315C>T | ENSP00000384753.5:p.His439Tyr | |
| ENST00000594072.5:c.1493C>T | ENSP00000468845.3:p.Ser498Leu | |
| ENST00000596626.1:n.1522C>T | ||
| ENST00000598347.2:c.1333C>T | ||
| NM_001278443.1:c.1460C>T | NP_001265372.1:p.Ser487Leu | |
| NM_001278444.1:c.1493C>T | NP_001265373.1:p.Ser498Leu | |
| NM_001278445.1:c.1397C>T | NP_001265374.1:p.Ser466Leu | |
| NM_152363.5:c.1571C>T | NP_689576.5:p.Ser524Leu | |
| NR_103530.1:n.1429C>T | ||
| NM_001278443.2:c.1298C>T | NP_001265372.2:p.Ser433Leu | |
| NM_001278444.2:c.1331C>T | NP_001265373.2:p.Ser444Leu | |
| NM_001278445.2:c.1289C>T | NP_001265374.2:p.Ser430Leu | |
| NM_152363.6:c.1409C>T MANE Select | NP_689576.6:p.Ser470Leu | |
| NR_103530.2:n.1173C>T |