Linked Data
ClinVar Variation Id:
127780
ClinVar RCV Id:
RCV000115684
RCV000206341
RCV000212871
RCV000411108
RCV000515369
RCV001355417
RCV000759201
RCV003415891
RCV003149800
dbSNP Id:
rs143340522
ExAC:
7:6017314 C / T
gnomAD v2:
7-6017314-C-T
gnomAD v3:
7-5977683-C-T
gnomAD v4:
7-5977683-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5977683C>T , CM000669.2:g.5977683C>T | GRCh38 |
| NC_000007.13:g.6017314C>T , CM000669.1:g.6017314C>T | GRCh37 |
| NC_000007.12:g.5983840C>T | NCBI36 |
| NG_008466.1:g.36424G>A , LRG_161:g.36424G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1746G>A | ENSP00000514615.2:n.*1746G>A | |
| ENST00000699840.2:c.2347G>A | ENSP00000514638.2:p.Asp783Asn | |
| ENST00000699930.2:c.2242G>A | ENSP00000514695.2:p.Asp748Asn | |
| ENST00000406569.8:c.1710G>A | ENSP00000514464.1:p.Ser570= | |
| ENST00000644110.2:c.*1944G>A | ENSP00000496392.2:n.*1944G>A | |
| ENST00000699752.1:c.2194G>A | ENSP00000514561.1:p.Asp732Asn | |
| ENST00000699753.1:c.*1771G>A | ENSP00000514562.1:n.*1771G>A | |
| ENST00000699754.1:c.2152G>A | ENSP00000514563.1:p.Asp718Asn | |
| ENST00000699755.1:c.*1749G>A | ENSP00000514564.1:n.*1749G>A | |
| ENST00000699756.1:c.*1937G>A | ENSP00000514565.1:n.*1937G>A | |
| ENST00000699757.1:c.*1607G>A | ENSP00000514566.1:n.*1607G>A | |
| ENST00000699758.1:c.*1607G>A | ENSP00000514567.1:n.*1607G>A | |
| ENST00000699759.1:n.3204G>A | ||
| ENST00000699760.1:c.2032G>A | ENSP00000514568.1:p.Asp678Asn | |
| ENST00000699761.1:c.1945G>A | ENSP00000514569.1:p.Asp649Asn | |
| ENST00000699762.1:c.1777G>A | ENSP00000514570.1:p.Asp593Asn | |
| ENST00000699763.1:c.*1440G>A | ENSP00000514571.1:n.*1440G>A | |
| ENST00000699764.1:c.*668G>A | ENSP00000514572.1:n.*668G>A | |
| ENST00000699765.1:c.*1345G>A | ENSP00000514573.1:n.*1345G>A | |
| ENST00000699766.1:c.2383G>A | ENSP00000514574.1:p.Asp795Asn | |
| ENST00000699767.1:c.2307G>A | ENSP00000514575.1:p.Ser769= | |
| ENST00000699768.1:c.2206G>A | ENSP00000514576.1:p.Asp736Asn | |
| ENST00000699811.1:c.1945G>A | ENSP00000514614.1:p.Asp649Asn | |
| ENST00000699813.1:n.2463G>A | ||
| ENST00000699814.1:c.1973G>A | ||
| ENST00000699815.1:c.*1881G>A | ENSP00000514616.1:n.*1881G>A | |
| ENST00000699816.1:c.*1240G>A | ENSP00000514617.1:n.*1240G>A | |
| ENST00000699817.1:c.*1944G>A | ENSP00000514618.1:n.*1944G>A | |
| ENST00000699818.1:c.1945G>A | ENSP00000514619.1:p.Asp649Asn | |
| ENST00000699819.1:c.*1507G>A | ENSP00000514620.1:n.*1507G>A | |
| ENST00000699820.1:c.*288G>A | ENSP00000514621.1:n.*288G>A | |
| ENST00000699821.1:c.1978G>A | ENSP00000514622.1:p.Asp660Asn | |
| ENST00000699822.1:c.*1802G>A | ENSP00000514623.1:n.*1802G>A | |
| ENST00000699823.1:c.1945G>A | ENSP00000514624.1:p.Asp649Asn | |
| ENST00000699824.1:c.*1853G>A | ENSP00000514625.1:n.*1853G>A | |
| ENST00000699825.1:c.1789G>A | ENSP00000514626.1:p.Asp597Asn | |
| ENST00000699826.1:c.*1749G>A | ENSP00000514627.1:n.*1749G>A | |
| ENST00000699827.1:c.2182G>A | ENSP00000514628.1:p.Asp728Asn | |
| ENST00000699828.1:c.*1440G>A | ENSP00000514629.1:n.*1440G>A | |
| ENST00000699833.1:n.4122G>A | ||
| ENST00000699837.1:c.1945G>A | ENSP00000514635.1:p.Asp649Asn | |
| ENST00000699838.1:c.*2250G>A | ENSP00000514636.1:n.*2250G>A | |
| ENST00000699839.1:c.2536G>A | ENSP00000514637.1:p.Asp846Asn | |
| ENST00000699916.1:c.*1607G>A | ENSP00000514684.1:n.*1607G>A | |
| ENST00000699917.1:c.*1799G>A | ENSP00000514685.1:n.*1799G>A | |
| ENST00000699918.1:c.*1851G>A | ENSP00000514686.1:n.*1851G>A | |
| ENST00000699919.1:c.*1937G>A | ENSP00000514687.1:n.*1937G>A | |
| ENST00000699920.1:c.*1986G>A | ENSP00000514688.1:n.*1986G>A | |
| ENST00000699928.1:c.*288G>A | ENSP00000514693.1:n.*288G>A | |
| ENST00000699951.1:c.*1403G>A | ENSP00000514706.1:n.*1403G>A | |
| ENST00000699952.1:c.804-4141G>A | ENSP00000514707.1:n.804-4141G>A | |
| ENST00000265849.12:c.2350G>A MANE Select | ENSP00000265849.7:p.Asp784Asn | |
| ENST00000642292.1:c.1945G>A | ENSP00000495524.1:p.Asp649Asn | |
| ENST00000642456.1:c.1945G>A | ENSP00000493814.1:p.Asp649Asn | |
| ENST00000643595.1:c.*1749G>A | ENSP00000494497.1:n.*1749G>A | |
| ENST00000644110.1:c.2032G>A | ENSP00000496392.1:p.Asp678Asn | |
| ENST00000265849.11:c.2350G>A | ENSP00000265849.7:p.Asp784Asn | |
| ENST00000382321.5:c.1147G>A | ENSP00000371758.4:p.Asp383Asn | |
| ENST00000406569.7:n.1710G>A | ||
| ENST00000441476.6:c.2032G>A | ENSP00000392843.2:p.Asp678Asn | |
| NM_000535.5:c.2350G>A , LRG_161t1:c.2350G>A | NP_000526.1:p.Asp784Asn | |
| NR_003085.2:n.2432G>A | ||
| XM_006715742.2:c.2344G>A | XP_006715805.1:p.Asp782Asn | |
| XM_006715744.2:c.1417G>A | XP_006715807.1:p.Asp473Asn | |
| XM_011515427.1:c.2395G>A | XP_011513729.1:p.Asp799Asn | |
| XM_011515428.1:c.2239G>A | XP_011513730.1:p.Asp747Asn | |
| XM_011515429.1:c.2032G>A | XP_011513731.1:p.Asp678Asn | |
| XM_011515430.1:c.2032G>A | XP_011513732.1:p.Asp678Asn | |
| NM_000535.6:c.2350G>A | NP_000526.2:p.Asp784Asn | |
| NM_001322003.1:c.1945G>A | NP_001308932.1:p.Asp649Asn | |
| NM_001322004.1:c.1945G>A | NP_001308933.1:p.Asp649Asn | |
| NM_001322005.1:c.1945G>A | NP_001308934.1:p.Asp649Asn | |
| NM_001322006.1:c.2194G>A | NP_001308935.1:p.Asp732Asn | |
| NM_001322007.1:c.2032G>A | NP_001308936.1:p.Asp678Asn | |
| NM_001322008.1:c.2032G>A | NP_001308937.1:p.Asp678Asn | |
| NM_001322009.1:c.1978G>A | NP_001308938.1:p.Asp660Asn | |
| NM_001322010.1:c.1789G>A | NP_001308939.1:p.Asp597Asn | |
| NM_001322011.1:c.1417G>A | NP_001308940.1:p.Asp473Asn | |
| NM_001322012.1:c.1417G>A | NP_001308941.1:p.Asp473Asn | |
| NM_001322013.1:c.1777G>A | NP_001308942.1:p.Asp593Asn | |
| NM_001322014.1:c.2383G>A | NP_001308943.1:p.Asp795Asn | |
| NM_001322015.1:c.2041G>A | NP_001308944.1:p.Asp681Asn | |
| NR_136154.1:n.2394G>A | ||
| XM_006715744.4:c.1417G>A | XP_006715807.1:p.Asp473Asn | |
| XM_017012342.2:c.1417G>A | XP_016867831.1:p.Asp473Asn | |
| XM_024446800.1:c.1789G>A | XP_024302568.1:p.Asp597Asn | |
| NM_000535.7:c.2350G>A MANE Select | NP_000526.2:p.Asp784Asn | |
| NM_001322003.2:c.1945G>A | NP_001308932.1:p.Asp649Asn | |
| NM_001322004.2:c.1945G>A | NP_001308933.1:p.Asp649Asn | |
| NM_001322005.2:c.1945G>A | NP_001308934.1:p.Asp649Asn | |
| NM_001322006.2:c.2194G>A | NP_001308935.1:p.Asp732Asn | |
| NM_001322008.2:c.2032G>A | NP_001308937.1:p.Asp678Asn | |
| NM_001322009.2:c.1978G>A | NP_001308938.1:p.Asp660Asn | |
| NM_001322010.2:c.1789G>A | NP_001308939.1:p.Asp597Asn | |
| NM_001322011.2:c.1417G>A | NP_001308940.1:p.Asp473Asn | |
| NM_001322012.2:c.1417G>A | NP_001308941.1:p.Asp473Asn | |
| NM_001322013.2:c.1777G>A | NP_001308942.1:p.Asp593Asn | |
| NM_001322014.2:c.2383G>A | NP_001308943.1:p.Asp795Asn | |
| NM_001322015.2:c.2041G>A | NP_001308944.1:p.Asp681Asn | |
| NM_001322007.2:c.2032G>A | NP_001308936.1:p.Asp678Asn |