Linked Data
dbSNP Id:
rs6296
ExAC:
6:78172260 C / G
gnomAD v2:
6-78172260-C-G
gnomAD v3:
6-77462543-C-G
gnomAD v4:
6-77462543-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.77462543C>G , CM000668.2:g.77462543C>G | GRCh38 |
| NC_000006.11:g.78172260C>G , CM000668.1:g.78172260C>G | GRCh37 |
| NC_000006.10:g.78228979C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369947.5:c.861G>C MANE Select | ENSP00000358963.3:p.Val287= | |
| ENST00000369947.3:c.861G>C | ENSP00000358963.2:p.Val287= | |
| NM_000863.1:c.861G>C | NP_000854.1:p.Val287= | |
| NM_000863.2:c.861G>C | NP_000854.1:p.Val287= | |
| XR_942706.1:n.545-11983C>G | ||
| XR_942707.1:n.545-11983C>G | ||
| XR_942708.1:n.545-11983C>G | ||
| XR_942709.1:n.545-11983C>G | ||
| XR_942708.2:n.545-11983C>G | ||
| NM_000863.3:c.861G>C MANE Select | NP_000854.1:p.Val287= |