Linked Data
ClinVar Variation Id:
941146
ClinVar RCV Id:
RCV001210869
dbSNP Id:
rs369870892
ExAC:
11:61725652 C / G
gnomAD v2:
11-61725652-C-G
gnomAD v3:
11-61958180-C-G
gnomAD v4:
11-61958180-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61958180C>G , CM000673.2:g.61958180C>G | GRCh38 |
| NC_000011.9:g.61725652C>G , CM000673.1:g.61725652C>G | GRCh37 |
| NC_000011.8:g.61482228C>G | NCBI36 |
| NG_009033.1:g.13297C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.749C>G MANE Select | ENSP00000367282.4:p.Thr250Ser | |
| ENST00000378043.8:c.749C>G | ENSP00000367282.4:p.Thr250Ser | |
| ENST00000449131.6:c.569C>G | ENSP00000399709.2:p.Thr190Ser | |
| ENST00000524877.5:n.1181C>G | ||
| ENST00000524926.5:c.749C>G | ENSP00000432681.1:p.Thr250Ser | |
| ENST00000526988.1:c.431C>G | ENSP00000433195.1:p.Thr144Ser | |
| ENST00000529265.5:n.672C>G | ||
| ENST00000534553.5:c.163+2229C>G | ENSP00000431189.1:n.163+2229C>G | |
| NM_001139443.1:c.569C>G | NP_001132915.1:p.Thr190Ser | |
| NM_001300786.1:c.569C>G | NP_001287715.1:p.Thr190Ser | |
| NM_001300787.1:c.569C>G | NP_001287716.1:p.Thr190Ser | |
| NM_004183.3:c.749C>G | NP_004174.1:p.Thr250Ser | |
| XM_005274210.2:c.749C>G | XP_005274267.1:p.Thr250Ser | |
| XM_005274215.2:c.431C>G | XP_005274272.1:p.Thr144Ser | |
| XM_005274216.2:c.569C>G | XP_005274273.1:p.Thr190Ser | |
| XM_005274218.3:c.431C>G | XP_005274275.1:p.Thr144Ser | |
| XM_005274219.2:c.749C>G | XP_005274276.1:p.Thr250Ser | |
| XM_005274221.2:c.714+716C>G | XP_005274278.1:n.714+716C>G | |
| XM_011545229.1:c.749C>G | XP_011543531.1:p.Thr250Ser | |
| XM_011545230.1:c.656C>G | XP_011543532.1:p.Thr219Ser | |
| XM_011545231.1:c.431C>G | XP_011543533.1:p.Thr144Ser | |
| XM_011545232.1:c.749C>G | XP_011543534.1:p.Thr250Ser | |
| NM_001363591.1:c.431C>G | NP_001350520.1:p.Thr144Ser | |
| NM_001363592.1:c.749C>G | NP_001350521.1:p.Thr250Ser | |
| NM_001363593.1:c.-427C>G | NP_001350522.1:n.-427C>G | |
| NR_134580.1:n.1329C>G | ||
| XM_005274210.4:c.749C>G | XP_005274267.1:p.Thr250Ser | |
| XM_005274215.4:c.431C>G | XP_005274272.1:p.Thr144Ser | |
| XM_005274216.4:c.569C>G | XP_005274273.1:p.Thr190Ser | |
| XM_005274219.4:c.749C>G | XP_005274276.1:p.Thr250Ser | |
| XM_005274221.4:c.714+716C>G | XP_005274278.1:n.714+716C>G | |
| XM_011545229.3:c.749C>G | XP_011543531.1:p.Thr250Ser | |
| XM_011545230.3:c.656C>G | XP_011543532.1:p.Thr219Ser | |
| XM_017018230.2:c.431C>G | XP_016873719.1:p.Thr144Ser | |
| XR_001747952.2:n.1247C>G | ||
| XR_001747953.2:n.1439C>G | ||
| XR_001747954.2:n.1404+716C>G | ||
| XR_001748245.1:n.549G>C | ||
| XR_002957249.1:n.505+44G>C | ||
| NM_004183.4:c.749C>G MANE Select | NP_004174.1:p.Thr250Ser | |
| NM_001139443.2:c.569C>G | NP_001132915.1:p.Thr190Ser | |
| NM_001300786.2:c.569C>G | NP_001287715.1:p.Thr190Ser | |
| NM_001300787.2:c.569C>G | NP_001287716.1:p.Thr190Ser | |
| NM_001363591.2:c.431C>G | NP_001350520.1:p.Thr144Ser | |
| NM_001363593.2:c.-427C>G | NP_001350522.1:n.-427C>G | |
| NR_134580.2:n.862C>G |