Linked Data
ClinVar Variation Id:
448738
dbSNP Id:
rs138831802
gnomAD v2:
16-2138478-G-A
gnomAD v3:
16-2088477-G-A
gnomAD v4:
16-2088477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088477G>A , CM000678.2:g.2088477G>A | GRCh38 |
| NC_000016.9:g.2138478G>A , CM000678.1:g.2138478G>A | GRCh37 |
| NC_000016.8:g.2078479G>A | NCBI36 |
| NG_005895.1:g.44172G>A , LRG_487:g.44172G>A | |
| NG_008617.1:g.54744C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3640G>A | ENSP00000455997.2:n.*3640G>A | |
| ENST00000642206.2:c.5138G>A | ENSP00000495146.2:p.Ser1713Asn | |
| ENST00000642365.2:c.5288G>A | ENSP00000495459.2:p.Ser1763Asn | |
| ENST00000644417.2:c.*5804G>A | ENSP00000493912.2:n.*5804G>A | |
| ENST00000646464.2:c.*8040G>A | ENSP00000496610.2:n.*8040G>A | |
| ENST00000219476.9:c.5291G>A MANE Select | ENSP00000219476.3:p.Ser1764Asn | |
| ENST00000350773.9:c.5222G>A | ENSP00000344383.4:p.Ser1741Asn | |
| ENST00000401874.7:c.5090G>A | ENSP00000384468.2:p.Ser1697Asn | |
| ENST00000568454.6:c.5123G>A | ENSP00000454487.1:p.Ser1708Asn | |
| ENST00000569110.2:c.1514G>A | ||
| ENST00000569930.2:n.3173G>A | ||
| ENST00000642365.1:c.3945G>A | ||
| ENST00000642561.1:c.5150G>A | ENSP00000495099.1:p.Ser1717Asn | |
| ENST00000642791.1:n.888G>A | ||
| ENST00000642797.1:c.5093G>A | ENSP00000493846.1:p.Ser1698Asn | |
| ENST00000642936.1:c.5159G>A | ENSP00000494514.1:p.Ser1720Asn | |
| ENST00000643088.1:c.5084G>A | ENSP00000494747.1:p.Ser1695Asn | |
| ENST00000643426.1:n.2939G>A | ||
| ENST00000643946.1:c.5216G>A | ENSP00000495927.1:p.Ser1739Asn | |
| ENST00000644043.1:c.5162G>A | ENSP00000496262.1:p.Ser1721Asn | |
| ENST00000644329.1:c.5177G>A | ENSP00000496611.1:p.Ser1726Asn | |
| ENST00000644335.1:c.5087G>A | ENSP00000496317.1:p.Ser1696Asn | |
| ENST00000644399.1:c.5212G>A | ||
| ENST00000645024.1:n.3375G>A | ||
| ENST00000646388.1:c.5285G>A | ENSP00000495921.1:p.Ser1762Asn | |
| ENST00000646634.1:n.4106G>A | ||
| ENST00000646674.1:n.2543G>A | ||
| ENST00000647042.1:n.2514G>A | ||
| ENST00000647180.1:n.2404G>A | ||
| ENST00000219476.7:c.5291G>A | ENSP00000219476.3:p.Ser1764Asn | |
| ENST00000350773.8:c.5222G>A | ENSP00000344383.4:p.Ser1741Asn | |
| ENST00000382538.10:c.4946G>A | ENSP00000371978.6:p.Ser1649Asn | |
| ENST00000401874.6:c.5090G>A | ENSP00000384468.2:p.Ser1697Asn | |
| ENST00000439117.6:c.*4458G>A | ENSP00000406980.2:n.*4458G>A | |
| ENST00000439673.6:c.4982G>A | ENSP00000399232.2:p.Ser1661Asn | |
| ENST00000497886.5:n.3014G>A | ||
| ENST00000568454.5:c.5123G>A | ENSP00000454487.1:p.Ser1708Asn | |
| ENST00000569110.1:c.1473G>A | ||
| ENST00000569930.1:n.2406G>A | ||
| NM_000548.3:c.5291G>A , LRG_487t1:c.5291G>A | NP_000539.2:p.Ser1764Asn | |
| NM_001077183.1:c.5090G>A | NP_001070651.1:p.Ser1697Asn | |
| NM_001114382.1:c.5222G>A | NP_001107854.1:p.Ser1741Asn | |
| XM_005255529.3:c.5162G>A | XP_005255586.2:p.Ser1721Asn | |
| XM_005255531.3:c.5093G>A | XP_005255588.2:p.Ser1698Asn | |
| XM_011522636.1:c.5345G>A | XP_011520938.1:p.Ser1782Asn | |
| XM_011522637.1:c.5342G>A | XP_011520939.1:p.Ser1781Asn | |
| XM_011522638.1:c.5234G>A | XP_011520940.1:p.Ser1745Asn | |
| XM_011522639.1:c.5216G>A | XP_011520941.1:p.Ser1739Asn | |
| XM_011522640.1:c.5213G>A | XP_011520942.1:p.Ser1738Asn | |
| XM_011522641.1:c.4982G>A | XP_011520943.1:p.Ser1661Asn | |
| NM_000548.4:c.5291G>A | NP_000539.2:p.Ser1764Asn | |
| NM_001077183.2:c.5090G>A | NP_001070651.1:p.Ser1697Asn | |
| NM_001114382.2:c.5222G>A | NP_001107854.1:p.Ser1741Asn | |
| NM_001318827.1:c.4982G>A | NP_001305756.1:p.Ser1661Asn | |
| NM_001318829.1:c.4946G>A | NP_001305758.1:p.Ser1649Asn | |
| NM_001318831.1:c.4559G>A | NP_001305760.1:p.Ser1520Asn | |
| NM_001318832.1:c.5123G>A | NP_001305761.1:p.Ser1708Asn | |
| NM_001363528.1:c.5093G>A | NP_001350457.1:p.Ser1698Asn | |
| NM_021055.2:c.5162G>A | NP_066399.2:p.Ser1721Asn | |
| XM_005255531.4:c.5093G>A | XP_005255588.2:p.Ser1698Asn | |
| XM_011522636.2:c.5345G>A | XP_011520938.1:p.Ser1782Asn | |
| XM_011522637.2:c.5342G>A | XP_011520939.1:p.Ser1781Asn | |
| XM_011522638.2:c.5507G>A | XP_011520940.2:p.Ser1836Asn | |
| XM_011522639.2:c.5216G>A | XP_011520941.1:p.Ser1739Asn | |
| XM_011522640.2:c.5213G>A | XP_011520942.1:p.Ser1738Asn | |
| XM_017023615.1:c.5288G>A | XP_016879104.1:p.Ser1763Asn | |
| XM_017023616.1:c.5159G>A | XP_016879105.1:p.Ser1720Asn | |
| XM_017023617.1:c.5255G>A | XP_016879106.1:p.Ser1752Asn | |
| XM_017023618.1:c.4001G>A | XP_016879107.1:p.Ser1334Asn | |
| XM_024450413.1:c.5177G>A | XP_024306181.1:p.Ser1726Asn | |
| NM_000548.5:c.5291G>A MANE Select | NP_000539.2:p.Ser1764Asn | |
| NM_001370404.1:c.5159G>A | NP_001357333.1:p.Ser1720Asn | |
| NM_001370405.1:c.5150G>A | NP_001357334.1:p.Ser1717Asn | |
| NM_001077183.3:c.5090G>A | NP_001070651.1:p.Ser1697Asn | |
| NM_001114382.3:c.5222G>A | NP_001107854.1:p.Ser1741Asn | |
| NM_001318827.2:c.4982G>A | NP_001305756.1:p.Ser1661Asn | |
| NM_001318829.2:c.4946G>A | NP_001305758.1:p.Ser1649Asn | |
| NM_001318831.2:c.4559G>A | NP_001305760.1:p.Ser1520Asn | |
| NM_001318832.2:c.5123G>A | NP_001305761.1:p.Ser1708Asn | |
| NM_001363528.2:c.5093G>A | NP_001350457.1:p.Ser1698Asn | |
| NM_021055.3:c.5162G>A | NP_066399.2:p.Ser1721Asn |