Linked Data
ClinVar Variation Id:
1303207
dbSNP Id:
rs201229911
ExAC:
11:116661394 G / C
gnomAD v2:
11-116661394-G-C
gnomAD v3:
11-116790678-G-C
gnomAD v4:
11-116790678-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790678G>C , CM000673.2:g.116790678G>C | GRCh38 |
| NC_000011.9:g.116661394G>C , CM000673.1:g.116661394G>C | GRCh37 |
| NC_000011.8:g.116166604G>C | NCBI36 |
| NG_015894.1:g.6743C>G | |
| NG_015894.2:g.6743C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.551C>G MANE Select | ENSP00000227665.4:p.Thr184Ser | |
| ENST00000433069.2:c.551C>G | ENSP00000399701.2:p.Thr184Ser | |
| ENST00000673688.1:c.635C>G | ENSP00000501141.1:p.Thr212Ser | |
| ENST00000227665.8:c.551C>G | ENSP00000227665.4:p.Thr184Ser | |
| ENST00000542499.5:c.551C>G | ENSP00000445002.1:p.Thr184Ser | |
| NM_001166598.1:c.551C>G | NP_001160070.1:p.Thr184Ser | |
| NM_052968.4:c.551C>G | NP_443200.2:p.Thr184Ser | |
| NM_001166598.2:c.551C>G | NP_001160070.1:p.Thr184Ser | |
| NM_001371904.1:c.551C>G MANE Select | NP_001358833.1:p.Thr184Ser | |
| NM_052968.5:c.551C>G | NP_443200.2:p.Thr184Ser |