Linked Data
ClinVar Variation Id:
1141377
ClinVar RCV Id:
RCV001478815
dbSNP Id:
rs1943590147
MyVariant Identifiers:
chr11:g.118897765C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027055C>G , CM000673.2:g.119027055C>G | GRCh38 |
| NC_000011.9:g.118897765C>G , CM000673.1:g.118897765C>G | GRCh37 |
| NC_000011.8:g.118402975C>G | NCBI36 |
| NG_013331.1:g.8851G>C , LRG_187:g.8851G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.896G>C | ||
| ENST00000697845.1:n.820G>C | ||
| ENST00000697846.1:n.896G>C | ||
| ENST00000697847.1:n.896G>C | ||
| ENST00000697848.1:n.896G>C | ||
| ENST00000697849.1:n.1935G>C | ||
| ENST00000697850.1:n.896G>C | ||
| ENST00000697851.1:n.2256G>C | ||
| ENST00000638186.1:n.970G>C | ||
| ENST00000638360.1:n.802G>C | ||
| ENST00000638925.1:n.903G>C | ||
| ENST00000650539.1:n.1072G>C | ||
| ENST00000330775.9:c.666G>C | ENSP00000476242.2:p.Leu222= | |
| ENST00000357590.9:c.666G>C | ENSP00000476176.2:p.Leu222= | |
| ENST00000524428.5:n.988G>C | ||
| ENST00000525039.5:n.1090G>C | ||
| ENST00000525102.5:n.1424G>C | ||
| ENST00000525372.5:n.667G>C | ||
| ENST00000526275.5:n.1448G>C | ||
| ENST00000526626.6:n.629G>C | ||
| ENST00000527992.5:n.894G>C | ||
| ENST00000529510.5:n.440G>C | ||
| ENST00000530407.5:n.816G>C | ||
| ENST00000532085.1:n.3277G>C | ||
| ENST00000532888.6:n.962G>C | ||
| ENST00000538950.5:c.447G>C | ENSP00000475991.2:p.Leu149= | |
| ENST00000545985.5:c.666G>C | ENSP00000475241.2:p.Leu222= | |
| NM_001164277.1:c.666G>C , LRG_187t1:c.666G>C | NP_001157749.1:p.Leu222= | |
| NM_001164278.1:c.666G>C | NP_001157750.1:p.Leu222= | |
| NM_001164279.1:c.447G>C | NP_001157751.1:p.Leu149= | |
| NM_001164280.1:c.666G>C | NP_001157752.1:p.Leu222= | |
| NM_001467.5:c.666G>C | NP_001458.1:p.Leu222= | |
| NM_001164278.2:c.666G>C | NP_001157750.1:p.Leu222= | |
| NM_001164279.2:c.447G>C | NP_001157751.1:p.Leu149= | |
| NM_001164280.2:c.666G>C | NP_001157752.1:p.Leu222= | |
| NM_001467.6:c.666G>C | NP_001458.1:p.Leu222= | |
| NM_001164277.2:c.666G>C MANE Select | NP_001157749.1:p.Leu222= |