Linked Data
ClinVar Variation Id:
437774
ClinVar RCV Id:
RCV000500232
dbSNP Id:
rs11537982
ExAC:
6:99323424 C / G
gnomAD v2:
6-99323424-C-G
gnomAD v4:
6-98875548-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98875548C>G , CM000668.2:g.98875548C>G | GRCh38 |
| NC_000006.11:g.99323424C>G , CM000668.1:g.99323424C>G | GRCh37 |
| NC_000006.10:g.99430145C>G | NCBI36 |
| NG_033903.1:g.77459G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1569G>C MANE Select | ENSP00000358247.1:p.Gly523= | |
| ENST00000229971.2:c.1569G>C | ENSP00000229971.1:p.Gly523= | |
| ENST00000369244.6:c.1569G>C | ENSP00000358247.1:p.Gly523= | |
| NM_001278716.1:c.1569G>C | NP_001265645.1:p.Gly523= | |
| NM_012160.4:c.1569G>C | NP_036292.2:p.Gly523= | |
| NR_103836.1:n.1614G>C | ||
| XM_005266930.1:c.1497G>C | XP_005266987.1:p.Gly499= | |
| XM_005266930.3:c.1497G>C | XP_005266987.1:p.Gly499= | |
| XM_017010726.1:c.1569G>C | XP_016866215.1:p.Gly523= | |
| XM_017010727.2:c.1497G>C | XP_016866216.1:p.Gly499= | |
| XM_017010728.1:c.843G>C | XP_016866217.1:p.Gly281= | |
| NM_001278716.2:c.1569G>C MANE Select | NP_001265645.1:p.Gly523= | |
| NR_103836.2:n.1554G>C | ||
| NM_012160.5:c.1569G>C | NP_036292.2:p.Gly523= |