Linked Data
dbSNP Id:
rs1324558107
gnomAD v2:
6-30890991-C-G
gnomAD v3:
6-30923214-C-G
gnomAD v4:
6-30923214-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923214C>G , CM000668.2:g.30923214C>G | GRCh38 |
| NC_000006.11:g.30890991C>G , CM000668.1:g.30890991C>G | GRCh37 |
| NC_000006.10:g.30998970C>G | NCBI36 |
| NG_034224.1:g.14007C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2296C>G | ENSP00000441000.2:p.Pro766Ala | |
| ENST00000672801.1:c.2290C>G | ENSP00000500615.1:p.Pro764Ala | |
| ENST00000676266.1:c.2296C>G MANE Select | ENSP00000502585.1:p.Pro766Ala | |
| ENST00000321897.9:c.2296C>G | ENSP00000316092.5:p.Pro766Ala | |
| ENST00000469358.5:n.2284C>G | ||
| ENST00000473916.1:n.7C>G | ||
| ENST00000476162.5:n.1083C>G | ||
| ENST00000477052.1:n.382C>G | ||
| ENST00000477288.5:n.4909C>G | ||
| ENST00000541562.5:c.2386C>G | ENSP00000441000.1:p.Pro796Ala | |
| ENST00000542001.5:c.2290C>G | ENSP00000438200.2:p.Pro764Ala | |
| ENST00000625423.2:c.1876C>G | ENSP00000485818.1:p.Pro626Ala | |
| NM_001167733.2:c.1876C>G | NP_001161205.1:p.Pro626Ala | |
| NM_001167734.1:c.2386C>G | NP_001161206.1:p.Pro796Ala | |
| NM_020442.5:c.2296C>G | NP_065175.4:p.Pro766Ala | |
| NM_001167733.3:c.1876C>G | NP_001161205.1:p.Pro626Ala | |
| NM_001167734.2:c.2386C>G | NP_001161206.1:p.Pro796Ala | |
| NM_020442.6:c.2296C>G MANE Select | NP_065175.4:p.Pro766Ala |