Linked Data
ClinVar Variation Id:
219845
ClinVar RCV Id:
RCV000204746
RCV000242020
RCV000352499
RCV000395902
RCV001594871
RCV002277564
RCV002453739
RCV000291574
RCV000346606
RCV000395892
RCV001172943
dbSNP Id:
rs34071623
ExAC:
12:110222146 C / G
gnomAD v2:
12-110222146-C-G
gnomAD v3:
12-109784341-C-G
gnomAD v4:
12-109784341-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109784341C>G , CM000674.2:g.109784341C>G | GRCh38 |
| NC_000012.11:g.110222146C>G , CM000674.1:g.110222146C>G | GRCh37 |
| NC_000012.10:g.108706529C>G | NCBI36 |
| NG_017090.1:g.54067G>C , LRG_372:g.54067G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.2433G>C MANE Select | ENSP00000261740.2:p.Ser811= | |
| ENST00000418703.7:c.2433G>C | ENSP00000406191.2:p.Ser811= | |
| ENST00000674908.1:c.*1520G>C | ENSP00000502012.1:n.*1520G>C | |
| ENST00000675670.1:c.2433G>C | ENSP00000502135.1:p.Ser811= | |
| ENST00000261740.6:c.2433G>C | ENSP00000261740.2:p.Ser811= | |
| ENST00000418703.6:c.2433G>C | ENSP00000406191.2:p.Ser811= | |
| ENST00000536838.1:c.2331G>C | ENSP00000444336.1:p.Ser777= | |
| ENST00000537083.5:c.2253G>C | ENSP00000442738.1:p.Ser751= | |
| ENST00000538125.5:c.*816G>C | ENSP00000437449.1:n.*816G>C | |
| ENST00000541794.5:c.2292G>C | ENSP00000442167.1:p.Ser764= | |
| ENST00000544971.5:c.2112G>C | ENSP00000443611.1:p.Ser704= | |
| NM_001177428.1:c.2292G>C | NP_001170899.1:p.Ser764= | |
| NM_001177431.1:c.2331G>C | NP_001170902.1:p.Ser777= | |
| NM_001177433.1:c.2112G>C | NP_001170904.1:p.Ser704= | |
| NM_021625.4:c.2433G>C , LRG_372t1:c.2433G>C | NP_067638.3:p.Ser811= | |
| NM_147204.2:c.2253G>C | NP_671737.1:p.Ser751= | |
| XM_005253918.1:c.2433G>C | XP_005253975.1:p.Ser811= | |
| XM_011538630.1:c.2433G>C | XP_011536932.1:p.Ser811= | |
| XM_011538631.1:c.2292G>C | XP_011536933.1:p.Ser764= | |
| XM_011538632.1:c.2253G>C | XP_011536934.1:p.Ser751= | |
| XM_011538633.1:c.2112G>C | XP_011536935.1:p.Ser704= | |
| XM_011538630.2:c.2586G>C | XP_011536932.2:p.Ser862= | |
| XM_011538631.2:c.2445G>C | XP_011536933.2:p.Ser815= | |
| XM_011538632.2:c.2406G>C | XP_011536934.2:p.Ser802= | |
| XM_011538633.2:c.2265G>C | XP_011536935.2:p.Ser755= | |
| XM_017019774.1:c.2433G>C | XP_016875263.1:p.Ser811= | |
| NM_021625.5:c.2433G>C MANE Select | NP_067638.3:p.Ser811= |