Linked Data
dbSNP Id:
rs2075301452
gnomAD v4:
1-17401536-T-C
MyVariant Identifiers:
chr1:g.17728032T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401536T>C , CM000663.2:g.17401536T>C | GRCh38 |
| NC_000001.10:g.17728032T>C , CM000663.1:g.17728032T>C | GRCh37 |
| NC_000001.9:g.17600619T>C | NCBI36 |
| NG_032943.1:g.34291T>C | |
| NG_032943.2:g.34291T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.*98T>C MANE Select | ENSP00000483125.1:n.*98T>C | |
| NM_207421.4:c.*98T>C MANE Select | NP_997304.3:n.*98T>C |