Linked Data
ClinVar Variation Id:
549900
ClinVar RCV Id:
RCV000664472
dbSNP Id:
rs1555191915
gnomAD v4:
11-119029385-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029385G>C , CM000673.2:g.119029385G>C | GRCh38 |
| NC_000011.9:g.118900095G>C , CM000673.1:g.118900095G>C | GRCh37 |
| NC_000011.8:g.118405305G>C | NCBI36 |
| NG_013331.1:g.6522C>G , LRG_187:g.6522C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.214C>G | ||
| ENST00000697846.1:n.214C>G | ||
| ENST00000697847.1:n.214C>G | ||
| ENST00000697848.1:n.214C>G | ||
| ENST00000697849.1:n.458C>G | ||
| ENST00000697850.1:n.214C>G | ||
| ENST00000697851.1:n.458C>G | ||
| ENST00000638186.1:n.288C>G | ||
| ENST00000638360.1:n.222C>G | ||
| ENST00000638925.1:n.221C>G | ||
| ENST00000650539.1:n.390C>G | ||
| ENST00000330775.9:c.-16C>G | ENSP00000476242.2:n.-16C>G | |
| ENST00000357590.9:c.-16C>G | ENSP00000476176.2:n.-16C>G | |
| ENST00000525039.5:n.408C>G | ||
| ENST00000525102.5:n.742C>G | ||
| ENST00000525787.1:n.280C>G | ||
| ENST00000526626.6:n.180C>G | ||
| ENST00000527992.5:n.212C>G | ||
| ENST00000529510.5:n.3C>G | ||
| ENST00000530407.5:n.197+7C>G | ||
| ENST00000532085.1:n.1479C>G | ||
| ENST00000532888.6:n.180C>G | ||
| ENST00000534384.1:n.205C>G | ||
| ENST00000538950.5:c.-172+7C>G | ENSP00000475991.2:n.-172+7C>G | |
| ENST00000545985.5:c.-16C>G | ENSP00000475241.2:n.-16C>G | |
| NM_001164277.1:c.-16C>G , LRG_187t1:c.-16C>G | NP_001157749.1:n.-16C>G | |
| NM_001164278.1:c.-16C>G | NP_001157750.1:n.-16C>G | |
| NM_001164279.1:c.-172+7C>G | NP_001157751.1:n.-172+7C>G | |
| NM_001164280.1:c.-16C>G | NP_001157752.1:n.-16C>G | |
| NM_001467.5:c.-16C>G | NP_001458.1:n.-16C>G | |
| NM_001164278.2:c.-16C>G | NP_001157750.1:n.-16C>G | |
| NM_001164279.2:c.-172+7C>G | NP_001157751.1:n.-172+7C>G | |
| NM_001164280.2:c.-16C>G | NP_001157752.1:n.-16C>G | |
| NM_001467.6:c.-16C>G | NP_001458.1:n.-16C>G | |
| NM_001164277.2:c.-16C>G MANE Select | NP_001157749.1:n.-16C>G |