Linked Data
ClinVar Variation Id:
1804163
ClinVar RCV Id:
RCV002468901
dbSNP Id:
rs1941820458
gnomAD v3:
11-61959562-T-G
gnomAD v4:
11-61959562-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61959562T>G , CM000673.2:g.61959562T>G | GRCh38 |
| NC_000011.9:g.61727034T>G , CM000673.1:g.61727034T>G | GRCh37 |
| NC_000011.8:g.61483610T>G | NCBI36 |
| NG_009033.1:g.14679T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.932T>G MANE Select | ENSP00000367282.4:p.Val311Gly | |
| ENST00000378043.8:c.932T>G | ENSP00000367282.4:p.Val311Gly | |
| ENST00000449131.6:c.752T>G | ENSP00000399709.2:p.Val251Gly | |
| ENST00000524877.5:n.2563T>G | ||
| ENST00000524926.5:c.1135T>G | ENSP00000432681.1:p.Ser379Ala | |
| ENST00000526988.1:c.817T>G | ENSP00000433195.1:p.Ser273Ala | |
| ENST00000534553.5:c.164-2693T>G | ENSP00000431189.1:n.164-2693T>G | |
| NM_001139443.1:c.752T>G | NP_001132915.1:p.Val251Gly | |
| NM_001300786.1:c.688-330T>G | NP_001287715.1:n.688-330T>G | |
| NM_001300787.1:c.752T>G | NP_001287716.1:p.Val251Gly | |
| NM_004183.3:c.932T>G | NP_004174.1:p.Val311Gly | |
| XM_005274210.2:c.932T>G | XP_005274267.1:p.Val311Gly | |
| XM_005274215.2:c.614T>G | XP_005274272.1:p.Val205Gly | |
| XM_005274216.2:c.955T>G | XP_005274273.1:p.Ser319Ala | |
| XM_005274218.3:c.817T>G | XP_005274275.1:p.Ser273Ala | |
| XM_005274219.2:c.867+1264T>G | XP_005274276.1:n.867+1264T>G | |
| XM_005274221.2:c.714+2098T>G | XP_005274278.1:n.714+2098T>G | |
| XM_011545229.1:c.932T>G | XP_011543531.1:p.Val311Gly | |
| XM_011545230.1:c.839T>G | XP_011543532.1:p.Val280Gly | |
| XM_011545231.1:c.614T>G | XP_011543533.1:p.Val205Gly | |
| XM_011545232.1:c.1135T>G | XP_011543534.1:p.Ser379Ala | |
| XM_011545233.1:c.89T>G | XP_011543535.1:p.Val30Gly | |
| NM_001363591.1:c.614T>G | NP_001350520.1:p.Val205Gly | |
| NM_001363592.1:c.1135T>G | NP_001350521.1:p.Ser379Ala | |
| NM_001363593.1:c.-41T>G | NP_001350522.1:n.-41T>G | |
| NR_134580.1:n.1715T>G | ||
| XM_005274210.4:c.932T>G | XP_005274267.1:p.Val311Gly | |
| XM_005274215.4:c.614T>G | XP_005274272.1:p.Val205Gly | |
| XM_005274216.4:c.955T>G | XP_005274273.1:p.Ser319Ala | |
| XM_005274219.4:c.867+1264T>G | XP_005274276.1:n.867+1264T>G | |
| XM_005274221.4:c.714+2098T>G | XP_005274278.1:n.714+2098T>G | |
| XM_011545229.3:c.932T>G | XP_011543531.1:p.Val311Gly | |
| XM_011545230.3:c.839T>G | XP_011543532.1:p.Val280Gly | |
| XM_011545233.3:c.89T>G | XP_011543535.1:p.Val30Gly | |
| XM_017018230.2:c.817T>G | XP_016873719.1:p.Ser273Ala | |
| XR_001747952.2:n.1633T>G | ||
| XR_001747953.2:n.1557+1264T>G | ||
| XR_001747954.2:n.1404+2098T>G | ||
| XR_001748245.1:n.196+170A>C | ||
| XR_002957249.1:n.196+170A>C | ||
| NM_004183.4:c.932T>G MANE Select | NP_004174.1:p.Val311Gly | |
| NM_001139443.2:c.752T>G | NP_001132915.1:p.Val251Gly | |
| NM_001300786.2:c.688-330T>G | NP_001287715.1:n.688-330T>G | |
| NM_001300787.2:c.752T>G | NP_001287716.1:p.Val251Gly | |
| NM_001363591.2:c.614T>G | NP_001350520.1:p.Val205Gly | |
| NM_001363593.2:c.-41T>G | NP_001350522.1:n.-41T>G | |
| NR_134580.2:n.1248T>G |