Linked Data
dbSNP Id:
rs1391315296
gnomAD v4:
1-17393957-T-C
MyVariant Identifiers:
chr1:g.17393957T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17393957T>C , CM000663.2:g.17393957T>C | GRCh38 |
| NC_000001.10:g.17720453T>C , CM000663.1:g.17720453T>C | GRCh37 |
| NC_000001.9:g.17593040T>C | NCBI36 |
| NG_032943.1:g.26712T>C | |
| NG_032943.2:g.26712T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619609.1:c.1075-18T>C MANE Select | ENSP00000483125.1:n.1075-18T>C | |
| NM_207421.4:c.1075-18T>C MANE Select | NP_997304.3:n.1075-18T>C |