Linked Data
ClinVar Variation Id:
16393
ClinVar RCV Id:
RCV000017819
dbSNP Id:
rs606231224
PubMed:
PMID:12393540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569800G>T , CM000666.2:g.154569800G>T | GRCh38 |
| NC_000004.11:g.155490952G>T , CM000666.1:g.155490952G>T | GRCh37 |
| NC_000004.10:g.155710402G>T | NCBI36 |
| NG_008833.1:g.11821G>T , LRG_558:g.11821G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1244+1G>T MANE Select | ENSP00000306099.4:n.1244+1G>T | |
| ENST00000302068.8:c.1244+1G>T | ENSP00000306099.4:n.1244+1G>T | |
| ENST00000502545.5:n.939+493G>T | ||
| ENST00000509493.1:c.587+1G>T | ENSP00000426757.1:n.587+1G>T | |
| NM_001184741.1:c.1067+1G>T | NP_001171670.1:n.1067+1G>T | |
| NM_005141.4:c.1244+1G>T , LRG_558t1:c.1244+1G>T | NP_005132.2:n.1244+1G>T | |
| NM_001382759.1:c.1112+1G>T | NP_001369688.1:n.1112+1G>T | |
| NM_001382760.1:c.1244+1G>T | NP_001369689.1:n.1244+1G>T | |
| NM_001382761.1:c.1244+1G>T | NP_001369690.1:n.1244+1G>T | |
| NM_001382762.1:c.944+1G>T | NP_001369691.1:n.944+1G>T | |
| NM_001382763.1:c.1235+1G>T | NP_001369692.1:n.1235+1G>T | |
| NM_001382764.1:c.*18+1G>T | NP_001369693.1:n.*18+1G>T | |
| NM_001382765.1:c.1220+25G>T | NP_001369694.1:n.1220+25G>T | |
| NM_005141.5:c.1244+1G>T MANE Select | NP_005132.2:n.1244+1G>T |