Linked Data
ClinVar Variation Id:
324321
ClinVar RCV Id:
RCV000365144
dbSNP Id:
rs76889595
gnomAD v2:
17-59758416-A-G
gnomAD v3:
17-61681055-A-G
gnomAD v4:
17-61681055-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61681055A>G , CM000679.2:g.61681055A>G | GRCh38 |
| NC_000017.10:g.59758416A>G , CM000679.1:g.59758416A>G | GRCh37 |
| NC_000017.9:g.57113198A>G | NCBI36 |
| NG_007409.2:g.187505T>C , LRG_300:g.187505T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682755.1:c.*2241T>C | ENSP00000507660.1:n.*2241T>C | |
| ENST00000259008.7:c.*2241T>C MANE Select | ENSP00000259008.2:n.*2241T>C | |
| NM_032043.2:c.*2241T>C , LRG_300t1:c.*2241T>C | NP_114432.2:n.*2241T>C | |
| NM_032043.3:c.*2241T>C MANE Select | NP_114432.2:n.*2241T>C |