Linked Data
ClinVar Variation Id:
380156
dbSNP Id:
rs2074511
ExAC:
6:30889389 T / C
gnomAD v2:
6-30889389-T-C
gnomAD v3:
6-30921612-T-C
gnomAD v4:
6-30921612-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30921612T>C , CM000668.2:g.30921612T>C | GRCh38 |
| NC_000006.11:g.30889389T>C , CM000668.1:g.30889389T>C | GRCh37 |
| NC_000006.10:g.30997368T>C | NCBI36 |
| NG_034224.1:g.12405T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541562.6:c.1656T>C | ENSP00000441000.2:p.Val552= | |
| ENST00000672801.1:c.1650T>C | ENSP00000500615.1:p.Val550= | |
| ENST00000676266.1:c.1656T>C MANE Select | ENSP00000502585.1:p.Val552= | |
| ENST00000321897.9:c.1656T>C | ENSP00000316092.5:p.Val552= | |
| ENST00000469358.5:n.1576T>C | ||
| ENST00000476162.5:n.514T>C | ||
| ENST00000477288.5:n.4269T>C | ||
| ENST00000541562.5:c.1746T>C | ENSP00000441000.1:p.Val582= | |
| ENST00000542001.5:c.1650T>C | ENSP00000438200.2:p.Val550= | |
| ENST00000625423.2:c.1236T>C | ENSP00000485818.1:p.Val412= | |
| NM_001167733.2:c.1236T>C | NP_001161205.1:p.Val412= | |
| NM_001167734.1:c.1746T>C | NP_001161206.1:p.Val582= | |
| NM_020442.5:c.1656T>C | NP_065175.4:p.Val552= | |
| NM_001167733.3:c.1236T>C | NP_001161205.1:p.Val412= | |
| NM_001167734.2:c.1746T>C | NP_001161206.1:p.Val582= | |
| NM_020442.6:c.1656T>C MANE Select | NP_065175.4:p.Val552= |