Linked Data
dbSNP Id:
rs776164794
ExAC:
4:5630406 C / G
gnomAD v2:
4-5630406-C-G
gnomAD v4:
4-5628679-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5628679C>G , CM000666.2:g.5628679C>G | GRCh38 |
| NC_000004.11:g.5630406C>G , CM000666.1:g.5630406C>G | GRCh37 |
| NC_000004.10:g.5681307C>G | NCBI36 |
| NG_015821.1:g.85870G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.1766G>C MANE Select | ENSP00000342144.5:p.Ser589Thr | |
| ENST00000310917.6:c.1526G>C | ENSP00000311683.2:p.Ser509Thr | |
| ENST00000344408.9:c.1766G>C | ENSP00000342144.5:p.Ser589Thr | |
| ENST00000475313.5:c.1526G>C | ENSP00000431981.1:p.Ser509Thr | |
| ENST00000509670.1:c.*159G>C | ENSP00000423876.1:n.*159G>C | |
| NM_001166136.1:c.1526G>C | NP_001159608.1:p.Ser509Thr | |
| NM_147127.4:c.1766G>C | NP_667338.3:p.Ser589Thr | |
| XM_011513392.1:c.1775G>C | XP_011511694.1:p.Ser592Thr | |
| XM_011513393.1:c.1775G>C | XP_011511695.1:p.Ser592Thr | |
| XM_011513394.1:c.1535G>C | XP_011511696.1:p.Ser512Thr | |
| XM_017007736.1:c.1526G>C | XP_016863225.1:p.Ser509Thr | |
| XM_017007737.1:c.1526G>C | XP_016863226.1:p.Ser509Thr | |
| XM_017007738.1:c.1766G>C | XP_016863227.1:p.Ser589Thr | |
| XM_017007739.1:c.86G>C | XP_016863228.1:p.Ser29Thr | |
| XM_024453893.1:c.86G>C | XP_024309661.1:p.Ser29Thr | |
| XR_001741141.1:n.1831G>C | ||
| NM_147127.5:c.1766G>C MANE Select | NP_667338.3:p.Ser589Thr | |
| NM_001166136.2:c.1526G>C | NP_001159608.1:p.Ser509Thr |