Linked Data
dbSNP Id:
rs779889786
ExAC:
11:5275568 C / G
gnomAD v2:
11-5275568-C-G
gnomAD v4:
11-5254338-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254338C>G , CM000673.2:g.5254338C>G | GRCh38 |
| NC_000011.9:g.5275568C>G , CM000673.1:g.5275568C>G | GRCh37 |
| NC_000011.8:g.5232144C>G | NCBI36 |
| NG_000007.3:g.43278G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.269G>C MANE Select | ENSP00000338082.4:p.Ser90Thr | |
| ENST00000380252.6:c.104G>C | ENSP00000369602.2:p.Ser35Thr | |
| ENST00000642908.1:c.269G>C | ENSP00000495346.1:p.Ser90Thr | |
| ENST00000647543.1:c.269G>C | ENSP00000496470.1:p.Ser90Thr | |
| ENST00000336906.4:c.269G>C | ENSP00000338082.4:p.Ser90Thr | |
| ENST00000380252.5:c.239G>C | ENSP00000369602.1:p.Ser80Thr | |
| ENST00000380259.6:c.269G>C | ENSP00000369609.2:p.Ser90Thr | |
| ENST00000444587.1:c.*138G>C | ENSP00000488218.1:n.*138G>C | |
| ENST00000620888.4:c.269G>C | ENSP00000479637.1:p.Ser90Thr | |
| ENST00000624109.1:c.86C>G | ENSP00000485458.1:p.Thr29Ser | |
| NM_000184.2:c.269G>C | NP_000175.1:p.Ser90Thr | |
| NM_000184.3:c.269G>C MANE Select | NP_000175.1:p.Ser90Thr |