Linked Data
ClinVar Variation Id:
1750829
dbSNP Id:
rs374702553
ExAC:
11:116661348 C / T
gnomAD v2:
11-116661348-C-T
gnomAD v3:
11-116790632-C-T
gnomAD v4:
11-116790632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790632C>T , CM000673.2:g.116790632C>T | GRCh38 |
| NC_000011.9:g.116661348C>T , CM000673.1:g.116661348C>T | GRCh37 |
| NC_000011.8:g.116166558C>T | NCBI36 |
| NG_015894.1:g.6789G>A | |
| NG_015894.2:g.6789G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.597G>A MANE Select | ENSP00000227665.4:p.Val199= | |
| ENST00000433069.2:c.597G>A | ENSP00000399701.2:p.Val199= | |
| ENST00000673688.1:c.681G>A | ENSP00000501141.1:p.Val227= | |
| ENST00000227665.8:c.597G>A | ENSP00000227665.4:p.Val199= | |
| ENST00000542499.5:c.597G>A | ENSP00000445002.1:p.Val199= | |
| NM_001166598.1:c.597G>A | NP_001160070.1:p.Val199= | |
| NM_052968.4:c.597G>A | NP_443200.2:p.Val199= | |
| NM_001166598.2:c.597G>A | NP_001160070.1:p.Val199= | |
| NM_001371904.1:c.597G>A MANE Select | NP_001358833.1:p.Val199= | |
| NM_052968.5:c.597G>A | NP_443200.2:p.Val199= |