Linked Data
ClinVar Variation Id:
550636
ClinVar RCV Id:
RCV002442391
dbSNP Id:
rs374287329
gnomAD v4:
11-119026045-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119026045G>T , CM000673.2:g.119026045G>T | GRCh38 |
| NC_000011.9:g.118896755G>T , CM000673.1:g.118896755G>T | GRCh37 |
| NC_000011.8:g.118401965G>T | NCBI36 |
| NG_013331.1:g.9861C>A , LRG_187:g.9861C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.1050C>A | ||
| ENST00000697845.1:n.1830C>A | ||
| ENST00000697846.1:n.1050C>A | ||
| ENST00000697847.1:n.1202-288C>A | ||
| ENST00000697848.1:n.1136C>A | ||
| ENST00000697849.1:n.2945C>A | ||
| ENST00000697850.1:n.1136C>A | ||
| ENST00000697851.1:n.2744C>A | ||
| ENST00000638186.1:n.1210C>A | ||
| ENST00000638360.1:n.1042C>A | ||
| ENST00000638925.1:n.1175C>A | ||
| ENST00000650539.1:n.1312C>A | ||
| ENST00000330775.9:c.906C>A | ENSP00000476242.2:p.Gly302= | |
| ENST00000357590.9:c.906C>A | ENSP00000476176.2:p.Gly302= | |
| ENST00000524428.5:n.1142C>A | ||
| ENST00000525039.5:n.1330C>A | ||
| ENST00000525102.5:n.1664C>A | ||
| ENST00000525372.5:n.1004C>A | ||
| ENST00000526275.5:n.1688C>A | ||
| ENST00000527992.5:n.1134C>A | ||
| ENST00000529510.5:n.594C>A | ||
| ENST00000530407.5:n.1056C>A | ||
| ENST00000532085.1:n.4287C>A | ||
| ENST00000538950.5:c.687C>A | ENSP00000475991.2:p.Gly229= | |
| ENST00000545985.5:c.906C>A | ENSP00000475241.2:p.Gly302= | |
| NM_001164277.1:c.906C>A , LRG_187t1:c.906C>A | NP_001157749.1:p.Gly302= | |
| NM_001164278.1:c.906C>A | NP_001157750.1:p.Gly302= | |
| NM_001164279.1:c.687C>A | NP_001157751.1:p.Gly229= | |
| NM_001164280.1:c.906C>A | NP_001157752.1:p.Gly302= | |
| NM_001467.5:c.906C>A | NP_001458.1:p.Gly302= | |
| NM_001164278.2:c.906C>A | NP_001157750.1:p.Gly302= | |
| NM_001164279.2:c.687C>A | NP_001157751.1:p.Gly229= | |
| NM_001164280.2:c.906C>A | NP_001157752.1:p.Gly302= | |
| NM_001467.6:c.906C>A | NP_001458.1:p.Gly302= | |
| NM_001164277.2:c.906C>A MANE Select | NP_001157749.1:p.Gly302= |