Linked Data
ClinVar Variation Id:
13651
ClinVar RCV Id:
RCV000014621
dbSNP Id:
rs587776801
PubMed:
PMID:19625727
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63648516G>C , CM000663.2:g.63648516G>C | GRCh38 |
| NC_000001.10:g.64114187G>C , CM000663.1:g.64114187G>C | GRCh37 |
| NC_000001.9:g.63886775G>C | NCBI36 |
| NG_016966.1:g.60241G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.1145-1G>C MANE Select | ENSP00000360125.3:n.1145-1G>C | |
| ENST00000650546.1:c.1145-1G>C | ENSP00000497812.1:n.1145-1G>C | |
| ENST00000371083.4:c.1199-1G>C | ENSP00000360124.4:n.1199-1G>C | |
| ENST00000371084.7:c.1145-1G>C | ENSP00000360125.3:n.1145-1G>C | |
| ENST00000540265.5:c.554-1G>C | ENSP00000443449.1:n.554-1G>C | |
| NM_001172818.1:c.1199-1G>C | NP_001166289.1:n.1199-1G>C | |
| NM_001172819.1:c.554-1G>C | NP_001166290.1:n.554-1G>C | |
| NM_002633.2:c.1145-1G>C | NP_002624.2:n.1145-1G>C | |
| NM_002633.3:c.1145-1G>C MANE Select | NP_002624.2:n.1145-1G>C | |
| NM_001172819.2:c.554-1G>C | NP_001166290.1:n.554-1G>C |