Linked Data
ClinVar Variation Id:
353007
ClinVar RCV Id:
RCV000305065
dbSNP Id:
rs886060473
gnomAD v2:
5-177419242-G-A
gnomAD v3:
5-177992241-G-A
gnomAD v4:
5-177992241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992241G>A , CM000667.2:g.177992241G>A | GRCh38 |
| NC_000005.9:g.177419242G>A , CM000667.1:g.177419242G>A | GRCh37 |
| NC_000005.8:g.177351848G>A | NCBI36 |
| NG_015889.1:g.9002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.*468C>T MANE Select | ENSP00000311290.2:n.*468C>T | |
| NM_006261.4:c.*468C>T | NP_006252.3:n.*468C>T | |
| NM_006261.5:c.*468C>T MANE Select | NP_006252.4:n.*468C>T |