Linked Data
dbSNP Id:
rs752494108
ExAC:
6:30890968 A / G
gnomAD v2:
6-30890968-A-G
gnomAD v4:
6-30923191-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923191A>G , CM000668.2:g.30923191A>G | GRCh38 |
| NC_000006.11:g.30890968A>G , CM000668.1:g.30890968A>G | GRCh37 |
| NC_000006.10:g.30998947A>G | NCBI36 |
| NG_034224.1:g.13984A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2273A>G | ENSP00000441000.2:p.Asn758Ser | |
| ENST00000672801.1:c.2267A>G | ENSP00000500615.1:p.Asn756Ser | |
| ENST00000676266.1:c.2273A>G MANE Select | ENSP00000502585.1:p.Asn758Ser | |
| ENST00000321897.9:c.2273A>G | ENSP00000316092.5:p.Asn758Ser | |
| ENST00000469358.5:n.2261A>G | ||
| ENST00000476162.5:n.1060A>G | ||
| ENST00000477052.1:n.359A>G | ||
| ENST00000477288.5:n.4886A>G | ||
| ENST00000541562.5:c.2363A>G | ENSP00000441000.1:p.Asn788Ser | |
| ENST00000542001.5:c.2267A>G | ENSP00000438200.2:p.Asn756Ser | |
| ENST00000625423.2:c.1853A>G | ENSP00000485818.1:p.Asn618Ser | |
| NM_001167733.2:c.1853A>G | NP_001161205.1:p.Asn618Ser | |
| NM_001167734.1:c.2363A>G | NP_001161206.1:p.Asn788Ser | |
| NM_020442.5:c.2273A>G | NP_065175.4:p.Asn758Ser | |
| NM_001167733.3:c.1853A>G | NP_001161205.1:p.Asn618Ser | |
| NM_001167734.2:c.2363A>G | NP_001161206.1:p.Asn788Ser | |
| NM_020442.6:c.2273A>G MANE Select | NP_065175.4:p.Asn758Ser |