Linked Data
ClinVar Variation Id:
676089
ClinVar RCV Id:
RCV000835485
dbSNP Id:
rs2014355
gnomAD v2:
12-121175524-T-C
gnomAD v3:
12-120737721-T-C
gnomAD v4:
12-120737721-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737721T>C , CM000674.2:g.120737721T>C | GRCh38 |
| NC_000012.11:g.121175524T>C , CM000674.1:g.121175524T>C | GRCh37 |
| NC_000012.10:g.119659907T>C | NCBI36 |
| NG_007991.1:g.16954T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.473-116T>C MANE Select | ENSP00000242592.4:n.473-116T>C | |
| ENST00000242592.8:c.473-116T>C | ENSP00000242592.4:n.473-116T>C | |
| ENST00000411593.2:c.472+254T>C | ENSP00000401045.2:n.472+254T>C | |
| ENST00000539690.1:n.1058T>C | ||
| NM_000017.3:c.473-116T>C | NP_000008.1:n.473-116T>C | |
| NM_001302554.1:c.472+254T>C | NP_001289483.1:n.472+254T>C | |
| NM_000017.4:c.473-116T>C MANE Select | NP_000008.1:n.473-116T>C | |
| NM_001302554.2:c.472+254T>C | NP_001289483.1:n.472+254T>C |