Linked Data
dbSNP Id:
rs766478637
ExAC:
7:6022549 C / T
gnomAD v2:
7-6022549-C-T
gnomAD v4:
7-5982918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5982918C>T , CM000669.2:g.5982918C>T | GRCh38 |
| NC_000007.13:g.6022549C>T , CM000669.1:g.6022549C>T | GRCh37 |
| NC_000007.12:g.5989075C>T | NCBI36 |
| NG_008466.1:g.31189G>A , LRG_161:g.31189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1476G>A | ENSP00000514615.2:n.*1476G>A | |
| ENST00000699840.2:c.2077G>A | ENSP00000514638.2:p.Asp693Asn | |
| ENST00000699930.2:c.1972G>A | ENSP00000514695.2:p.Asp658Asn | |
| ENST00000406569.8:c.1678+4169G>A | ENSP00000514464.1:n.1678+4169G>A | |
| ENST00000644110.2:c.*1674G>A | ENSP00000496392.2:n.*1674G>A | |
| ENST00000699752.1:c.1924G>A | ENSP00000514561.1:p.Asp642Asn | |
| ENST00000699753.1:c.*1501G>A | ENSP00000514562.1:n.*1501G>A | |
| ENST00000699754.1:c.1882G>A | ENSP00000514563.1:p.Asp628Asn | |
| ENST00000699755.1:c.*1479G>A | ENSP00000514564.1:n.*1479G>A | |
| ENST00000699756.1:c.*1667G>A | ENSP00000514565.1:n.*1667G>A | |
| ENST00000699757.1:c.*1337G>A | ENSP00000514566.1:n.*1337G>A | |
| ENST00000699758.1:c.*1337G>A | ENSP00000514567.1:n.*1337G>A | |
| ENST00000699759.1:n.2934G>A | ||
| ENST00000699760.1:c.1762G>A | ENSP00000514568.1:p.Asp588Asn | |
| ENST00000699761.1:c.1675G>A | ENSP00000514569.1:p.Asp559Asn | |
| ENST00000699762.1:c.1507G>A | ENSP00000514570.1:p.Asp503Asn | |
| ENST00000699763.1:c.*1170G>A | ENSP00000514571.1:n.*1170G>A | |
| ENST00000699764.1:c.*398G>A | ENSP00000514572.1:n.*398G>A | |
| ENST00000699765.1:c.*1176G>A | ENSP00000514573.1:n.*1176G>A | |
| ENST00000699766.1:c.2080G>A | ENSP00000514574.1:p.Asp694Asn | |
| ENST00000699767.1:c.2080G>A | ENSP00000514575.1:p.Asp694Asn | |
| ENST00000699768.1:c.2080G>A | ENSP00000514576.1:p.Asp694Asn | |
| ENST00000699811.1:c.1675G>A | ENSP00000514614.1:p.Asp559Asn | |
| ENST00000699813.1:n.2193G>A | ||
| ENST00000699814.1:c.1703G>A | ||
| ENST00000699815.1:c.*1611G>A | ENSP00000514616.1:n.*1611G>A | |
| ENST00000699816.1:c.*970G>A | ENSP00000514617.1:n.*970G>A | |
| ENST00000699817.1:c.*1674G>A | ENSP00000514618.1:n.*1674G>A | |
| ENST00000699818.1:c.1675G>A | ENSP00000514619.1:p.Asp559Asn | |
| ENST00000699819.1:c.*1237G>A | ENSP00000514620.1:n.*1237G>A | |
| ENST00000699820.1:c.*18G>A | ENSP00000514621.1:n.*18G>A | |
| ENST00000699821.1:c.1675G>A | ENSP00000514622.1:p.Asp559Asn | |
| ENST00000699822.1:c.*1532G>A | ENSP00000514623.1:n.*1532G>A | |
| ENST00000699823.1:c.1675G>A | ENSP00000514624.1:p.Asp559Asn | |
| ENST00000699824.1:c.*1583G>A | ENSP00000514625.1:n.*1583G>A | |
| ENST00000699825.1:c.1519G>A | ENSP00000514626.1:p.Asp507Asn | |
| ENST00000699826.1:c.*1479G>A | ENSP00000514627.1:n.*1479G>A | |
| ENST00000699827.1:c.1912G>A | ENSP00000514628.1:p.Asp638Asn | |
| ENST00000699828.1:c.*1170G>A | ENSP00000514629.1:n.*1170G>A | |
| ENST00000699833.1:n.3852G>A | ||
| ENST00000699837.1:c.1675G>A | ENSP00000514635.1:p.Asp559Asn | |
| ENST00000699838.1:c.*1980G>A | ENSP00000514636.1:n.*1980G>A | |
| ENST00000699839.1:c.2266G>A | ENSP00000514637.1:p.Asp756Asn | |
| ENST00000699916.1:c.*1337G>A | ENSP00000514684.1:n.*1337G>A | |
| ENST00000699917.1:c.*1529G>A | ENSP00000514685.1:n.*1529G>A | |
| ENST00000699918.1:c.*1581G>A | ENSP00000514686.1:n.*1581G>A | |
| ENST00000699919.1:c.*1667G>A | ENSP00000514687.1:n.*1667G>A | |
| ENST00000699920.1:c.*1716G>A | ENSP00000514688.1:n.*1716G>A | |
| ENST00000699928.1:c.*18G>A | ENSP00000514693.1:n.*18G>A | |
| ENST00000699951.1:c.*1176G>A | ENSP00000514706.1:n.*1176G>A | |
| ENST00000699952.1:c.804-9376G>A | ENSP00000514707.1:n.804-9376G>A | |
| ENST00000265849.12:c.2080G>A MANE Select | ENSP00000265849.7:p.Asp694Asn | |
| ENST00000642292.1:c.1675G>A | ENSP00000495524.1:p.Asp559Asn | |
| ENST00000642456.1:c.1675G>A | ENSP00000493814.1:p.Asp559Asn | |
| ENST00000643595.1:c.*1479G>A | ENSP00000494497.1:n.*1479G>A | |
| ENST00000644110.1:c.1762G>A | ENSP00000496392.1:p.Asp588Asn | |
| ENST00000265849.11:c.2080G>A | ENSP00000265849.7:p.Asp694Asn | |
| ENST00000382321.5:c.877G>A | ENSP00000371758.4:p.Asp293Asn | |
| ENST00000406569.7:n.1678+4169G>A | ||
| ENST00000441476.6:c.1762G>A | ENSP00000392843.2:p.Asp588Asn | |
| ENST00000469652.1:n.63-13G>A | ||
| NM_000535.5:c.2080G>A , LRG_161t1:c.2080G>A | NP_000526.1:p.Asp694Asn | |
| NR_003085.2:n.2162G>A | ||
| XM_006715742.2:c.2074G>A | XP_006715805.1:p.Asp692Asn | |
| XM_006715744.2:c.1147G>A | XP_006715807.1:p.Asp383Asn | |
| XM_011515427.1:c.2125G>A | XP_011513729.1:p.Asp709Asn | |
| XM_011515428.1:c.1969G>A | XP_011513730.1:p.Asp657Asn | |
| XM_011515429.1:c.1762G>A | XP_011513731.1:p.Asp588Asn | |
| XM_011515430.1:c.1762G>A | XP_011513732.1:p.Asp588Asn | |
| NM_000535.6:c.2080G>A | NP_000526.2:p.Asp694Asn | |
| NM_001322003.1:c.1675G>A | NP_001308932.1:p.Asp559Asn | |
| NM_001322004.1:c.1675G>A | NP_001308933.1:p.Asp559Asn | |
| NM_001322005.1:c.1675G>A | NP_001308934.1:p.Asp559Asn | |
| NM_001322006.1:c.1924G>A | NP_001308935.1:p.Asp642Asn | |
| NM_001322007.1:c.1762G>A | NP_001308936.1:p.Asp588Asn | |
| NM_001322008.1:c.1762G>A | NP_001308937.1:p.Asp588Asn | |
| NM_001322009.1:c.1675G>A | NP_001308938.1:p.Asp559Asn | |
| NM_001322010.1:c.1519G>A | NP_001308939.1:p.Asp507Asn | |
| NM_001322011.1:c.1147G>A | NP_001308940.1:p.Asp383Asn | |
| NM_001322012.1:c.1147G>A | NP_001308941.1:p.Asp383Asn | |
| NM_001322013.1:c.1507G>A | NP_001308942.1:p.Asp503Asn | |
| NM_001322014.1:c.2080G>A | NP_001308943.1:p.Asp694Asn | |
| NM_001322015.1:c.1771G>A | NP_001308944.1:p.Asp591Asn | |
| NR_136154.1:n.2167G>A | ||
| XM_006715744.4:c.1147G>A | XP_006715807.1:p.Asp383Asn | |
| XM_017012342.2:c.1147G>A | XP_016867831.1:p.Asp383Asn | |
| XM_024446800.1:c.1519G>A | XP_024302568.1:p.Asp507Asn | |
| NM_000535.7:c.2080G>A MANE Select | NP_000526.2:p.Asp694Asn | |
| NM_001322003.2:c.1675G>A | NP_001308932.1:p.Asp559Asn | |
| NM_001322004.2:c.1675G>A | NP_001308933.1:p.Asp559Asn | |
| NM_001322005.2:c.1675G>A | NP_001308934.1:p.Asp559Asn | |
| NM_001322006.2:c.1924G>A | NP_001308935.1:p.Asp642Asn | |
| NM_001322008.2:c.1762G>A | NP_001308937.1:p.Asp588Asn | |
| NM_001322009.2:c.1675G>A | NP_001308938.1:p.Asp559Asn | |
| NM_001322010.2:c.1519G>A | NP_001308939.1:p.Asp507Asn | |
| NM_001322011.2:c.1147G>A | NP_001308940.1:p.Asp383Asn | |
| NM_001322012.2:c.1147G>A | NP_001308941.1:p.Asp383Asn | |
| NM_001322013.2:c.1507G>A | NP_001308942.1:p.Asp503Asn | |
| NM_001322014.2:c.2080G>A | NP_001308943.1:p.Asp694Asn | |
| NM_001322015.2:c.1771G>A | NP_001308944.1:p.Asp591Asn | |
| NM_001322007.2:c.1762G>A | NP_001308936.1:p.Asp588Asn |