Linked Data
ClinVar Variation Id:
288246
dbSNP Id:
rs555640045
ExAC:
11:118897344 G / A
gnomAD v2:
11-118897344-G-A
gnomAD v3:
11-119026634-G-A
gnomAD v4:
11-119026634-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026634G>A , CM000673.2:g.119026634G>A | GRCh38 |
| NC_000011.9:g.118897344G>A , CM000673.1:g.118897344G>A | GRCh37 |
| NC_000011.8:g.118402554G>A | NCBI36 |
| NG_013331.1:g.9272C>T , LRG_187:g.9272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1014+303C>T | ||
| ENST00000697845.1:n.1241C>T | ||
| ENST00000697846.1:n.1014+303C>T | ||
| ENST00000697847.1:n.1069C>T | ||
| ENST00000697848.1:n.1069C>T | ||
| ENST00000697849.1:n.2356C>T | ||
| ENST00000697850.1:n.1069C>T | ||
| ENST00000697851.1:n.2677C>T | ||
| ENST00000638186.1:n.1143C>T | ||
| ENST00000638360.1:n.975C>T | ||
| ENST00000638925.1:n.1076C>T | ||
| ENST00000650539.1:n.1245C>T | ||
| ENST00000330775.9:c.839C>T | ENSP00000476242.2:p.Ala280Val | |
| ENST00000357590.9:c.839C>T | ENSP00000476176.2:p.Ala280Val | |
| ENST00000524428.5:n.1106+303C>T | ||
| ENST00000525039.5:n.1263C>T | ||
| ENST00000525102.5:n.1597C>T | ||
| ENST00000525372.5:n.840C>T | ||
| ENST00000526275.5:n.1621C>T | ||
| ENST00000527992.5:n.1067C>T | ||
| ENST00000529510.5:n.558+303C>T | ||
| ENST00000530407.5:n.989C>T | ||
| ENST00000532085.1:n.3698C>T | ||
| ENST00000538950.5:c.620C>T | ENSP00000475991.2:p.Ala207Val | |
| ENST00000545985.5:c.839C>T | ENSP00000475241.2:p.Ala280Val | |
| NM_001164277.1:c.839C>T , LRG_187t1:c.839C>T | NP_001157749.1:p.Ala280Val | |
| NM_001164278.1:c.839C>T | NP_001157750.1:p.Ala280Val | |
| NM_001164279.1:c.620C>T | NP_001157751.1:p.Ala207Val | |
| NM_001164280.1:c.839C>T | NP_001157752.1:p.Ala280Val | |
| NM_001467.5:c.839C>T | NP_001458.1:p.Ala280Val | |
| NM_001164278.2:c.839C>T | NP_001157750.1:p.Ala280Val | |
| NM_001164279.2:c.620C>T | NP_001157751.1:p.Ala207Val | |
| NM_001164280.2:c.839C>T | NP_001157752.1:p.Ala280Val | |
| NM_001467.6:c.839C>T | NP_001458.1:p.Ala280Val | |
| NM_001164277.2:c.839C>T MANE Select | NP_001157749.1:p.Ala280Val |