Linked Data
ClinVar Variation Id:
334599
dbSNP Id:
rs556914502
gnomAD v2:
2-225336690-A-G
gnomAD v3:
2-224471973-A-G
gnomAD v4:
2-224471973-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224471973A>G , CM000664.2:g.224471973A>G | GRCh38 |
| NC_000002.11:g.225336690A>G , CM000664.1:g.225336690A>G | GRCh37 |
| NC_000002.10:g.225044934A>G | NCBI36 |
| NG_032169.1:g.118425T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.*2272T>C MANE Select | ENSP00000264414.4:n.*2272T>C | |
| ENST00000264414.8:c.*2272T>C | ENSP00000264414.4:n.*2272T>C | |
| ENST00000344951.8:c.*2272T>C | ENSP00000343601.4:n.*2272T>C | |
| NM_001257197.1:c.*2272T>C | NP_001244126.1:n.*2272T>C | |
| NM_001257198.1:c.*2272T>C | NP_001244127.1:n.*2272T>C | |
| NM_003590.4:c.*2272T>C | NP_003581.1:n.*2272T>C | |
| NM_003590.5:c.*2272T>C MANE Select | NP_003581.1:n.*2272T>C | |
| NM_001257198.2:c.*2272T>C | NP_001244127.1:n.*2272T>C | |
| NM_001257197.2:c.*2272T>C | NP_001244126.1:n.*2272T>C |