Linked Data
ClinVar Variation Id:
303950
dbSNP Id:
rs886048095
gnomAD v3:
11-19182511-G-A
gnomAD v4:
11-19182511-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19182511G>A , CM000673.2:g.19182511G>A | GRCh38 |
| NC_000011.9:g.19204058G>A , CM000673.1:g.19204058G>A | GRCh37 |
| NC_000011.8:g.19160634G>A | NCBI36 |
| NG_011932.2:g.33063C>T , LRG_440:g.33063C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265968.9:c.*159C>T MANE Select | ENSP00000265968.3:n.*159C>T | |
| ENST00000533783.2:c.*159C>T | ENSP00000431813.1:n.*159C>T | |
| ENST00000647990.1:c.*122C>T | ENSP00000496798.1:n.*122C>T | |
| ENST00000648719.1:c.*262C>T | ENSP00000497633.1:n.*262C>T | |
| ENST00000649235.1:c.*159C>T | ENSP00000497388.1:n.*159C>T | |
| ENST00000649842.1:c.*122C>T | ENSP00000497531.1:n.*122C>T | |
| ENST00000265968.7:c.*159C>T | ENSP00000265968.3:n.*159C>T | |
| ENST00000533783.1:c.*159C>T | ENSP00000431813.1:n.*159C>T | |
| NM_003476.4:c.*159C>T | NP_003467.1:n.*159C>T | |
| XM_024448698.1:c.*122C>T | XP_024304466.1:n.*122C>T | |
| NM_001369404.1:c.*122C>T | NP_001356333.1:n.*122C>T | |
| NM_003476.5:c.*159C>T MANE Select | NP_003467.1:n.*159C>T |