Linked Data
dbSNP Id:
rs187701356
gnomAD v4:
1-42929185-G-C
MyVariant Identifiers:
chr1:g.43394856G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929185G>C , CM000663.2:g.42929185G>C | GRCh38 |
| NC_000001.10:g.43394856G>C , CM000663.1:g.43394856G>C | GRCh37 |
| NC_000001.9:g.43167443G>C | NCBI36 |
| NG_008232.1:g.34992C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.972+25C>G MANE Select | ENSP00000416293.2:n.972+25C>G | |
| ENST00000674545.1:n.315C>G | ||
| ENST00000674765.1:c.972+25C>G | ENSP00000501811.1:n.972+25C>G | |
| ENST00000675112.1:n.1273+25C>G | ||
| ENST00000676254.1:n.1421+25C>G | ||
| ENST00000426263.7:c.972+25C>G | ENSP00000416293.2:n.972+25C>G | |
| ENST00000439722.2:c.851+25C>G | ENSP00000395521.2:n.851+25C>G | |
| ENST00000475162.3:c.415+1441C>G | ||
| ENST00000630287.2:c.*287+25C>G | ENSP00000486694.1:n.*287+25C>G | |
| NM_006516.2:c.972+25C>G | NP_006507.2:n.972+25C>G | |
| NM_006516.3:c.972+25C>G | NP_006507.2:n.972+25C>G | |
| NM_006516.4:c.972+25C>G MANE Select | NP_006507.2:n.972+25C>G |