Linked Data
ClinVar Variation Id:
1118778
ClinVar RCV Id:
RCV001448032
dbSNP Id:
rs760217061
ExAC:
11:118898420 G / A
gnomAD v2:
11-118898420-G-A
gnomAD v4:
11-119027710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027710G>A , CM000673.2:g.119027710G>A | GRCh38 |
| NC_000011.9:g.118898420G>A , CM000673.1:g.118898420G>A | GRCh37 |
| NC_000011.8:g.118403630G>A | NCBI36 |
| NG_013331.1:g.8196C>T , LRG_187:g.8196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.773C>T | ||
| ENST00000697845.1:n.697C>T | ||
| ENST00000697846.1:n.773C>T | ||
| ENST00000697847.1:n.773C>T | ||
| ENST00000697848.1:n.773C>T | ||
| ENST00000697849.1:n.1812C>T | ||
| ENST00000697850.1:n.773C>T | ||
| ENST00000697851.1:n.2133C>T | ||
| ENST00000638186.1:n.847C>T | ||
| ENST00000638360.1:n.679C>T | ||
| ENST00000638925.1:n.780C>T | ||
| ENST00000650539.1:n.949C>T | ||
| ENST00000330775.9:c.543C>T | ENSP00000476242.2:p.Phe181= | |
| ENST00000357590.9:c.543C>T | ENSP00000476176.2:p.Phe181= | |
| ENST00000524428.5:n.865C>T | ||
| ENST00000525039.5:n.967C>T | ||
| ENST00000525102.5:n.1301C>T | ||
| ENST00000525372.5:n.544C>T | ||
| ENST00000526275.5:n.1325C>T | ||
| ENST00000526626.6:n.506C>T | ||
| ENST00000527992.5:n.771C>T | ||
| ENST00000529510.5:n.399+484C>T | ||
| ENST00000530407.5:n.693C>T | ||
| ENST00000532085.1:n.3154C>T | ||
| ENST00000532888.6:n.839C>T | ||
| ENST00000538950.5:c.324C>T | ENSP00000475991.2:p.Phe108= | |
| ENST00000545985.5:c.543C>T | ENSP00000475241.2:p.Phe181= | |
| NM_001164277.1:c.543C>T , LRG_187t1:c.543C>T | NP_001157749.1:p.Phe181= | |
| NM_001164278.1:c.543C>T | NP_001157750.1:p.Phe181= | |
| NM_001164279.1:c.324C>T | NP_001157751.1:p.Phe108= | |
| NM_001164280.1:c.543C>T | NP_001157752.1:p.Phe181= | |
| NM_001467.5:c.543C>T | NP_001458.1:p.Phe181= | |
| NM_001164278.2:c.543C>T | NP_001157750.1:p.Phe181= | |
| NM_001164279.2:c.324C>T | NP_001157751.1:p.Phe108= | |
| NM_001164280.2:c.543C>T | NP_001157752.1:p.Phe181= | |
| NM_001467.6:c.543C>T | NP_001458.1:p.Phe181= | |
| NM_001164277.2:c.543C>T MANE Select | NP_001157749.1:p.Phe181= |