Linked Data
ClinVar Variation Id:
366730
dbSNP Id:
rs17878854
ExAC:
9:35074166 G / A
gnomAD v2:
9-35074166-G-A
gnomAD v3:
9-35074169-G-A
gnomAD v4:
9-35074169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35074169G>A , CM000671.2:g.35074169G>A | GRCh38 |
| NC_000009.11:g.35074166G>A , CM000671.1:g.35074166G>A | GRCh37 |
| NC_000009.10:g.35064166G>A | NCBI36 |
| NG_007312.1:g.10848C>T , LRG_499:g.10848C>T | |
| NG_007887.1:g.3574C>T , LRG_657:g.3574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.1808C>T | ENSP00000409607.2:p.Ser603Phe | |
| ENST00000461149.2:n.3782C>T | ||
| ENST00000696700.1:n.3663C>T | ||
| ENST00000696701.1:n.2108C>T | ||
| ENST00000696702.1:c.*1259C>T | ENSP00000512821.1:n.*1259C>T | |
| ENST00000696703.1:c.*1192C>T | ENSP00000512822.1:n.*1192C>T | |
| ENST00000696706.1:n.1871C>T | ||
| ENST00000696707.1:n.2025C>T | ||
| ENST00000696708.1:c.*1153C>T | ENSP00000512825.1:n.*1153C>T | |
| ENST00000696709.1:n.3181C>T | ||
| ENST00000696710.1:c.1802C>T | ENSP00000512826.1:p.Ser601Phe | |
| ENST00000696711.1:n.4649C>T | ||
| ENST00000696712.1:n.2527C>T | ||
| ENST00000696713.1:c.*111C>T | ENSP00000512827.1:n.*111C>T | |
| ENST00000696714.1:n.2974C>T | ||
| ENST00000696715.1:c.*198C>T | ENSP00000512828.1:n.*198C>T | |
| ENST00000378643.8:c.1808C>T MANE Select | ENSP00000367910.4:p.Ser603Phe | |
| ENST00000681845.1:c.7C>T | ||
| ENST00000378643.7:c.1808C>T | ENSP00000367910.3:p.Ser603Phe | |
| ENST00000425676.5:c.*1284C>T | ENSP00000412793.1:n.*1284C>T | |
| ENST00000476212.1:n.154C>T | ||
| NM_004629.1:c.1808C>T , LRG_499t1:c.1808C>T | NP_004620.1:p.Ser603Phe | |
| NM_004629.2:c.1808C>T MANE Select | NP_004620.1:p.Ser603Phe |