Linked Data
ClinVar Variation Id:
309106
ClinVar RCV Id:
RCV000368188
dbSNP Id:
rs112818602
ExAC:
12:49488313 G / A
gnomAD v2:
12-49488313-G-A
gnomAD v3:
12-49094530-G-A
gnomAD v4:
12-49094530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49094530G>A , CM000674.2:g.49094530G>A | GRCh38 |
| NC_000012.11:g.49488313G>A , CM000674.1:g.49488313G>A | GRCh37 |
| NC_000012.10:g.47774580G>A | NCBI36 |
| NG_008973.1:g.5290C>T | |
| NG_008973.2:g.5290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649637.2:c.-18C>T MANE Select | ENSP00000497483.1:n.-18C>T | |
| ENST00000266991.2:c.-18C>T | ENSP00000266991.2:n.-18C>T | |
| NM_021044.2:c.-18C>T | NP_066382.1:n.-18C>T | |
| XR_944932.1:n.2211+342G>A | ||
| XR_944933.1:n.1868+342G>A | ||
| XR_944934.1:n.995+342G>A | ||
| NM_021044.4:c.-18C>T MANE Select | NP_066382.1:n.-18C>T | |
| XR_001749126.1:n.1548+342G>A | ||
| XR_001749127.2:n.1364+342G>A | ||
| XR_001749128.1:n.332+342G>A |