Linked Data
dbSNP Id:
rs1332831238
gnomAD v2:
1-17720655-C-A
gnomAD v3:
1-17394159-C-A
gnomAD v4:
1-17394159-C-A
MyVariant Identifiers:
chr1:g.17394159C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17394159C>A , CM000663.2:g.17394159C>A | GRCh38 |
| NC_000001.10:g.17720655C>A , CM000663.1:g.17720655C>A | GRCh37 |
| NC_000001.9:g.17593242C>A | NCBI36 |
| NG_032943.1:g.26914C>A | |
| NG_032943.2:g.26914C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1182+77C>A MANE Select | ENSP00000483125.1:n.1182+77C>A | |
| NM_207421.4:c.1182+77C>A MANE Select | NP_997304.3:n.1182+77C>A |