Linked Data
ClinVar Variation Id:
1140021
ClinVar RCV Id:
RCV001476956
dbSNP Id:
rs758536145
ExAC:
11:118898369 G / A
gnomAD v2:
11-118898369-G-A
gnomAD v3:
11-119027659-G-A
gnomAD v4:
11-119027659-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027659G>A , CM000673.2:g.119027659G>A | GRCh38 |
| NC_000011.9:g.118898369G>A , CM000673.1:g.118898369G>A | GRCh37 |
| NC_000011.8:g.118403579G>A | NCBI36 |
| NG_013331.1:g.8247C>T , LRG_187:g.8247C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.824C>T | ||
| ENST00000697845.1:n.748C>T | ||
| ENST00000697846.1:n.824C>T | ||
| ENST00000697847.1:n.824C>T | ||
| ENST00000697848.1:n.824C>T | ||
| ENST00000697849.1:n.1863C>T | ||
| ENST00000697850.1:n.824C>T | ||
| ENST00000697851.1:n.2184C>T | ||
| ENST00000638186.1:n.898C>T | ||
| ENST00000638360.1:n.730C>T | ||
| ENST00000638925.1:n.831C>T | ||
| ENST00000650539.1:n.1000C>T | ||
| ENST00000330775.9:c.594C>T | ENSP00000476242.2:p.Asn198= | |
| ENST00000357590.9:c.594C>T | ENSP00000476176.2:p.Asn198= | |
| ENST00000524428.5:n.916C>T | ||
| ENST00000525039.5:n.1018C>T | ||
| ENST00000525102.5:n.1352C>T | ||
| ENST00000525372.5:n.595C>T | ||
| ENST00000526275.5:n.1376C>T | ||
| ENST00000526626.6:n.557C>T | ||
| ENST00000527992.5:n.822C>T | ||
| ENST00000529510.5:n.399+535C>T | ||
| ENST00000530407.5:n.744C>T | ||
| ENST00000532085.1:n.3205C>T | ||
| ENST00000532888.6:n.890C>T | ||
| ENST00000538950.5:c.375C>T | ENSP00000475991.2:p.Asn125= | |
| ENST00000545985.5:c.594C>T | ENSP00000475241.2:p.Asn198= | |
| NM_001164277.1:c.594C>T , LRG_187t1:c.594C>T | NP_001157749.1:p.Asn198= | |
| NM_001164278.1:c.594C>T | NP_001157750.1:p.Asn198= | |
| NM_001164279.1:c.375C>T | NP_001157751.1:p.Asn125= | |
| NM_001164280.1:c.594C>T | NP_001157752.1:p.Asn198= | |
| NM_001467.5:c.594C>T | NP_001458.1:p.Asn198= | |
| NM_001164278.2:c.594C>T | NP_001157750.1:p.Asn198= | |
| NM_001164279.2:c.375C>T | NP_001157751.1:p.Asn125= | |
| NM_001164280.2:c.594C>T | NP_001157752.1:p.Asn198= | |
| NM_001467.6:c.594C>T | NP_001458.1:p.Asn198= | |
| NM_001164277.2:c.594C>T MANE Select | NP_001157749.1:p.Asn198= |