Linked Data
ClinVar Variation Id:
2991644
ClinVar RCV Id:
RCV003852707
dbSNP Id:
rs1180269819
gnomAD v2:
7-12258068-C-T
gnomAD v4:
7-12218442-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.12218442C>T , CM000669.2:g.12218442C>T | GRCh38 |
| NC_000007.13:g.12258068C>T , CM000669.1:g.12258068C>T | GRCh37 |
| NC_000007.12:g.12224593C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444443.6:c.218-16C>T | ENSP00000401302.2:n.218-16C>T | |
| ENST00000704347.1:c.218-16C>T | ENSP00000515858.1:n.218-16C>T | |
| ENST00000704348.1:c.218-16C>T | ENSP00000515859.1:n.218-16C>T | |
| ENST00000704349.1:c.218-16C>T | ENSP00000515860.1:n.218-16C>T | |
| ENST00000704382.1:n.352-16C>T | ||
| ENST00000704416.1:c.-13-5784C>T | ENSP00000515892.1:n.-13-5784C>T | |
| ENST00000704417.1:c.143-16C>T | ENSP00000515893.1:n.143-16C>T | |
| ENST00000704455.1:c.218-16C>T | ENSP00000515905.1:n.218-16C>T | |
| ENST00000704457.1:c.218-16C>T | ENSP00000515907.1:n.218-16C>T | |
| ENST00000396668.8:c.218-16C>T MANE Select | ENSP00000379902.3:n.218-16C>T | |
| ENST00000396667.7:c.218-16C>T | ENSP00000379901.2:n.218-16C>T | |
| ENST00000396668.7:c.218-16C>T | ENSP00000379902.3:n.218-16C>T | |
| ENST00000420833.5:c.*104-16C>T | ENSP00000391016.1:n.*104-16C>T | |
| ENST00000444443.5:c.218-16C>T | ENSP00000401302.1:n.218-16C>T | |
| NM_001134232.1:c.218-16C>T | NP_001127704.1:n.218-16C>T | |
| NM_018374.3:c.218-16C>T | NP_060844.2:n.218-16C>T | |
| XM_005249789.1:c.218-16C>T | XP_005249846.1:n.218-16C>T | |
| NM_001134232.2:c.218-16C>T MANE Select | NP_001127704.1:n.218-16C>T | |
| NM_018374.4:c.218-16C>T | NP_060844.2:n.218-16C>T |