Linked Data
dbSNP Id:
rs187361061
gnomAD v2:
1-17722286-C-T
gnomAD v3:
1-17395790-C-T
gnomAD v4:
1-17395790-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17395790C>T , CM000663.2:g.17395790C>T | GRCh38 |
| NC_000001.10:g.17722286C>T , CM000663.1:g.17722286C>T | GRCh37 |
| NC_000001.9:g.17594873C>T | NCBI36 |
| NG_032943.1:g.28545C>T | |
| NG_032943.2:g.28545C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619609.1:c.1618+127C>T MANE Select | ENSP00000483125.1:n.1618+127C>T | |
| NM_207421.4:c.1618+127C>T MANE Select | NP_997304.3:n.1618+127C>T |