Linked Data
ClinVar Variation Id:
287752
dbSNP Id:
rs41270545
ExAC:
6:80198817 A / C
gnomAD v2:
6-80198817-A-C
gnomAD v3:
6-79489100-A-C
gnomAD v4:
6-79489100-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79489100A>C , CM000668.2:g.79489100A>C | GRCh38 |
| NC_000006.11:g.80198817A>C , CM000668.1:g.80198817A>C | GRCh37 |
| NC_000006.10:g.80255536A>C | NCBI36 |
| NG_016011.1:g.53331T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369846.9:c.1215T>G MANE Select | ENSP00000358861.4:p.Val405= | |
| ENST00000369846.8:c.1215T>G | ENSP00000358861.4:p.Val405= | |
| ENST00000392959.5:c.1215T>G | ENSP00000376686.1:p.Val405= | |
| ENST00000467898.3:c.1215T>G | ENSP00000474463.1:p.Val405= | |
| NM_001122769.2:c.1215T>G | NP_001116241.1:p.Val405= | |
| NM_181714.3:c.1215T>G | NP_859065.2:p.Val405= | |
| XM_005248665.3:c.1215T>G | XP_005248722.1:p.Val405= | |
| XM_011535504.1:c.1215T>G | XP_011533806.1:p.Val405= | |
| XM_005248665.4:c.1215T>G | XP_005248722.1:p.Val405= | |
| XR_001744213.1:n.2836A>C | ||
| XR_001744214.1:n.2798A>C | ||
| NM_001122769.3:c.1215T>G MANE Select | NP_001116241.1:p.Val405= | |
| NM_181714.4:c.1215T>G | NP_859065.2:p.Val405= |