Linked Data
ClinVar Variation Id:
353008
ClinVar RCV Id:
RCV000338989
dbSNP Id:
rs116225539
gnomAD v2:
5-177419291-G-A
gnomAD v3:
5-177992290-G-A
gnomAD v4:
5-177992290-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992290G>A , CM000667.2:g.177992290G>A | GRCh38 |
| NC_000005.9:g.177419291G>A , CM000667.1:g.177419291G>A | GRCh37 |
| NC_000005.8:g.177351897G>A | NCBI36 |
| NG_015889.1:g.8953C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.*419C>T MANE Select | ENSP00000311290.2:n.*419C>T | |
| NM_006261.4:c.*419C>T | NP_006252.3:n.*419C>T | |
| NM_006261.5:c.*419C>T MANE Select | NP_006252.4:n.*419C>T |