Linked Data
ClinVar Variation Id:
499138
ClinVar RCV Id:
RCV000713881
RCV001087967
RCV001109154
RCV001114788
RCV001114789
RCV001114790
RCV001114791
RCV001173506
RCV002279378
RCV002448832
dbSNP Id:
rs138986228
ExAC:
12:110224547 C / G
gnomAD v2:
12-110224547-C-G
gnomAD v3:
12-109786742-C-G
gnomAD v4:
12-109786742-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109786742C>G , CM000674.2:g.109786742C>G | GRCh38 |
| NC_000012.11:g.110224547C>G , CM000674.1:g.110224547C>G | GRCh37 |
| NC_000012.10:g.108708930C>G | NCBI36 |
| NG_017090.1:g.51666G>C , LRG_372:g.51666G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.2304G>C MANE Select | ENSP00000261740.2:p.Ser768= | |
| ENST00000418703.7:c.2304G>C | ENSP00000406191.2:p.Ser768= | |
| ENST00000674908.1:c.*1391G>C | ENSP00000502012.1:n.*1391G>C | |
| ENST00000675670.1:c.2304G>C | ENSP00000502135.1:p.Ser768= | |
| ENST00000261740.6:c.2304G>C | ENSP00000261740.2:p.Ser768= | |
| ENST00000418703.6:c.2304G>C | ENSP00000406191.2:p.Ser768= | |
| ENST00000536838.1:c.2202G>C | ENSP00000444336.1:p.Ser734= | |
| ENST00000537083.5:c.2124G>C | ENSP00000442738.1:p.Ser708= | |
| ENST00000538125.5:c.*687G>C | ENSP00000437449.1:n.*687G>C | |
| ENST00000541794.5:c.2163G>C | ENSP00000442167.1:p.Ser721= | |
| ENST00000544971.5:c.1983G>C | ENSP00000443611.1:p.Ser661= | |
| NM_001177428.1:c.2163G>C | NP_001170899.1:p.Ser721= | |
| NM_001177431.1:c.2202G>C | NP_001170902.1:p.Ser734= | |
| NM_001177433.1:c.1983G>C | NP_001170904.1:p.Ser661= | |
| NM_021625.4:c.2304G>C , LRG_372t1:c.2304G>C | NP_067638.3:p.Ser768= | |
| NM_147204.2:c.2124G>C | NP_671737.1:p.Ser708= | |
| XM_005253918.1:c.2304G>C | XP_005253975.1:p.Ser768= | |
| XM_011538630.1:c.2304G>C | XP_011536932.1:p.Ser768= | |
| XM_011538631.1:c.2163G>C | XP_011536933.1:p.Ser721= | |
| XM_011538632.1:c.2124G>C | XP_011536934.1:p.Ser708= | |
| XM_011538633.1:c.1983G>C | XP_011536935.1:p.Ser661= | |
| XM_011538630.2:c.2457G>C | XP_011536932.2:p.Ser819= | |
| XM_011538631.2:c.2316G>C | XP_011536933.2:p.Ser772= | |
| XM_011538632.2:c.2277G>C | XP_011536934.2:p.Ser759= | |
| XM_011538633.2:c.2136G>C | XP_011536935.2:p.Ser712= | |
| XM_017019774.1:c.2304G>C | XP_016875263.1:p.Ser768= | |
| NM_021625.5:c.2304G>C MANE Select | NP_067638.3:p.Ser768= |