Linked Data
ClinVar Variation Id:
2785478
ClinVar RCV Id:
RCV003618173
gnomAD v4:
11-119026639-G-T
MyVariant Identifiers:
chr11:g.118897349G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026639G>T , CM000673.2:g.119026639G>T | GRCh38 |
| NC_000011.9:g.118897349G>T , CM000673.1:g.118897349G>T | GRCh37 |
| NC_000011.8:g.118402559G>T | NCBI36 |
| NG_013331.1:g.9267C>A , LRG_187:g.9267C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.1014+298C>A | ||
| ENST00000697845.1:n.1236C>A | ||
| ENST00000697846.1:n.1014+298C>A | ||
| ENST00000697847.1:n.1064C>A | ||
| ENST00000697848.1:n.1064C>A | ||
| ENST00000697849.1:n.2351C>A | ||
| ENST00000697850.1:n.1064C>A | ||
| ENST00000697851.1:n.2672C>A | ||
| ENST00000638186.1:n.1138C>A | ||
| ENST00000638360.1:n.970C>A | ||
| ENST00000638925.1:n.1071C>A | ||
| ENST00000650539.1:n.1240C>A | ||
| ENST00000330775.9:c.834C>A | ENSP00000476242.2:p.Ile278= | |
| ENST00000357590.9:c.834C>A | ENSP00000476176.2:p.Ile278= | |
| ENST00000524428.5:n.1106+298C>A | ||
| ENST00000525039.5:n.1258C>A | ||
| ENST00000525102.5:n.1592C>A | ||
| ENST00000525372.5:n.835C>A | ||
| ENST00000526275.5:n.1616C>A | ||
| ENST00000527992.5:n.1062C>A | ||
| ENST00000529510.5:n.558+298C>A | ||
| ENST00000530407.5:n.984C>A | ||
| ENST00000532085.1:n.3693C>A | ||
| ENST00000538950.5:c.615C>A | ENSP00000475991.2:p.Ile205= | |
| ENST00000545985.5:c.834C>A | ENSP00000475241.2:p.Ile278= | |
| NM_001164277.1:c.834C>A , LRG_187t1:c.834C>A | NP_001157749.1:p.Ile278= | |
| NM_001164278.1:c.834C>A | NP_001157750.1:p.Ile278= | |
| NM_001164279.1:c.615C>A | NP_001157751.1:p.Ile205= | |
| NM_001164280.1:c.834C>A | NP_001157752.1:p.Ile278= | |
| NM_001467.5:c.834C>A | NP_001458.1:p.Ile278= | |
| NM_001164278.2:c.834C>A | NP_001157750.1:p.Ile278= | |
| NM_001164279.2:c.615C>A | NP_001157751.1:p.Ile205= | |
| NM_001164280.2:c.834C>A | NP_001157752.1:p.Ile278= | |
| NM_001467.6:c.834C>A | NP_001458.1:p.Ile278= | |
| NM_001164277.2:c.834C>A MANE Select | NP_001157749.1:p.Ile278= |