Linked Data
dbSNP Id:
rs761863698
ExAC:
6:30890929 T / C
gnomAD v2:
6-30890929-T-C
gnomAD v3:
6-30923152-T-C
gnomAD v4:
6-30923152-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923152T>C , CM000668.2:g.30923152T>C | GRCh38 |
| NC_000006.11:g.30890929T>C , CM000668.1:g.30890929T>C | GRCh37 |
| NC_000006.10:g.30998908T>C | NCBI36 |
| NG_034224.1:g.13945T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2234T>C | ENSP00000441000.2:p.Phe745Ser | |
| ENST00000672801.1:c.2228T>C | ENSP00000500615.1:p.Phe743Ser | |
| ENST00000676266.1:c.2234T>C MANE Select | ENSP00000502585.1:p.Phe745Ser | |
| ENST00000321897.9:c.2234T>C | ENSP00000316092.5:p.Phe745Ser | |
| ENST00000469358.5:n.2222T>C | ||
| ENST00000476162.5:n.1021T>C | ||
| ENST00000477052.1:n.320T>C | ||
| ENST00000477288.5:n.4847T>C | ||
| ENST00000541562.5:c.2324T>C | ENSP00000441000.1:p.Phe775Ser | |
| ENST00000542001.5:c.2228T>C | ENSP00000438200.2:p.Phe743Ser | |
| ENST00000625423.2:c.1814T>C | ENSP00000485818.1:p.Phe605Ser | |
| NM_001167733.2:c.1814T>C | NP_001161205.1:p.Phe605Ser | |
| NM_001167734.1:c.2324T>C | NP_001161206.1:p.Phe775Ser | |
| NM_020442.5:c.2234T>C | NP_065175.4:p.Phe745Ser | |
| NM_001167733.3:c.1814T>C | NP_001161205.1:p.Phe605Ser | |
| NM_001167734.2:c.2324T>C | NP_001161206.1:p.Phe775Ser | |
| NM_020442.6:c.2234T>C MANE Select | NP_065175.4:p.Phe745Ser |