Linked Data
ClinVar Variation Id:
324295
ClinVar RCV Id:
RCV000344226
dbSNP Id:
rs573351550
gnomAD v2:
17-59757178-T-C
gnomAD v3:
17-61679817-T-C
gnomAD v4:
17-61679817-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61679817T>C , CM000679.2:g.61679817T>C | GRCh38 |
| NC_000017.10:g.59757178T>C , CM000679.1:g.59757178T>C | GRCh37 |
| NC_000017.9:g.57111960T>C | NCBI36 |
| NG_007409.2:g.188743A>G , LRG_300:g.188743A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682755.1:c.*3479A>G | ENSP00000507660.1:n.*3479A>G | |
| ENST00000259008.7:c.*3479A>G MANE Select | ENSP00000259008.2:n.*3479A>G | |
| NM_032043.2:c.*3479A>G , LRG_300t1:c.*3479A>G | NP_114432.2:n.*3479A>G | |
| NM_032043.3:c.*3479A>G MANE Select | NP_114432.2:n.*3479A>G |