Linked Data
ClinVar Variation Id:
371367
ClinVar RCV Id:
RCV000410375
dbSNP Id:
rs1057517218
gnomAD v3:
3-165829516-C-A
gnomAD v4:
3-165829516-C-A
COSMIC:
COSM4584083
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829516C>A , CM000665.2:g.165829516C>A | GRCh38 |
| NC_000003.11:g.165547304C>A , CM000665.1:g.165547304C>A | GRCh37 |
| NC_000003.10:g.167029998C>A | NCBI36 |
| NG_009031.1:g.12950G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1517+1G>T MANE Select | ENSP00000264381.3:n.1517+1G>T | |
| ENST00000264381.7:c.1517+1G>T | ENSP00000264381.3:n.1517+1G>T | |
| ENST00000479451.5:c.107+7798G>T | ENSP00000418325.1:n.107+7798G>T | |
| ENST00000482958.1:c.1517+1G>T | ENSP00000419804.1:n.1517+1G>T | |
| ENST00000488954.1:c.107+7798G>T | ENSP00000418504.1:n.107+7798G>T | |
| ENST00000497011.5:c.1517+1G>T | ENSP00000419505.1:n.1517+1G>T | |
| NM_000055.2:c.1517+1G>T | NP_000046.1:n.1517+1G>T | |
| XM_005247685.1:c.1640+1G>T | XP_005247742.1:n.1640+1G>T | |
| NM_000055.3:c.1517+1G>T | NP_000046.1:n.1517+1G>T | |
| NR_137635.1:n.159+7798G>T | ||
| NR_137636.1:n.1684+1G>T | ||
| NM_000055.4:c.1517+1G>T MANE Select | NP_000046.1:n.1517+1G>T | |
| NR_137635.2:n.110+7798G>T | ||
| NR_137636.2:n.1635+1G>T |