Linked Data
ClinVar Variation Id:
303948
ClinVar RCV Id:
RCV000288542
dbSNP Id:
rs45479995
gnomAD v2:
11-19203767-A-C
gnomAD v3:
11-19182220-A-C
gnomAD v4:
11-19182220-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19182220A>C , CM000673.2:g.19182220A>C | GRCh38 |
| NC_000011.9:g.19203767A>C , CM000673.1:g.19203767A>C | GRCh37 |
| NC_000011.8:g.19160343A>C | NCBI36 |
| NG_011932.2:g.33354T>G , LRG_440:g.33354T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265968.9:c.*450T>G MANE Select | ENSP00000265968.3:n.*450T>G | |
| ENST00000533783.2:c.*450T>G | ENSP00000431813.1:n.*450T>G | |
| ENST00000647990.1:c.*413T>G | ENSP00000496798.1:n.*413T>G | |
| ENST00000648719.1:c.*553T>G | ENSP00000497633.1:n.*553T>G | |
| ENST00000265968.7:c.*450T>G | ENSP00000265968.3:n.*450T>G | |
| ENST00000533783.1:c.*450T>G | ENSP00000431813.1:n.*450T>G | |
| NM_003476.4:c.*450T>G | NP_003467.1:n.*450T>G | |
| XM_024448698.1:c.*413T>G | XP_024304466.1:n.*413T>G | |
| NM_001369404.1:c.*413T>G | NP_001356333.1:n.*413T>G | |
| NM_003476.5:c.*450T>G MANE Select | NP_003467.1:n.*450T>G |