Linked Data
dbSNP Id:
rs2114692646
gnomAD v3:
6-131851245-C-A
gnomAD v4:
6-131851245-C-A
MyVariant Identifiers:
chr6:g.132172385C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851245C>A , CM000668.2:g.131851245C>A | GRCh38 |
| NC_000006.11:g.132172385C>A , CM000668.1:g.132172385C>A | GRCh37 |
| NC_000006.10:g.132214078C>A | NCBI36 |
| NG_008206.1:g.48230C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.534C>A MANE Select | ENSP00000498074.1:p.Ile178= | |
| ENST00000650147.1:c.212C>A | ||
| ENST00000650437.1:c.108+1139C>A | ||
| ENST00000360971.6:c.534C>A | ENSP00000354238.2:p.Ile178= | |
| ENST00000486853.1:n.554C>A | ||
| ENST00000513998.5:c.534C>A | ENSP00000422424.1:p.Ile178= | |
| NM_006208.2:c.534C>A | NP_006199.2:p.Ile178= | |
| NM_006208.3:c.534C>A MANE Select | NP_006199.2:p.Ile178= |