Linked Data
ClinVar Variation Id:
142251
dbSNP Id:
rs587782336
gnomAD v2:
7-6022624-T-G
gnomAD v4:
7-5982993-T-G
PubMed:
PMID:24763289
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5982993T>G , CM000669.2:g.5982993T>G | GRCh38 |
| NC_000007.13:g.6022624T>G , CM000669.1:g.6022624T>G | GRCh37 |
| NC_000007.12:g.5989150T>G | NCBI36 |
| NG_008466.1:g.31114A>C , LRG_161:g.31114A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1403-2A>C | ENSP00000514615.2:n.*1403-2A>C | |
| ENST00000699840.2:c.2004-2A>C | ENSP00000514638.2:n.2004-2A>C | |
| ENST00000699930.2:c.1899-2A>C | ENSP00000514695.2:n.1899-2A>C | |
| ENST00000406569.8:c.1678+4094A>C | ENSP00000514464.1:n.1678+4094A>C | |
| ENST00000644110.2:c.*1601-2A>C | ENSP00000496392.2:n.*1601-2A>C | |
| ENST00000699752.1:c.1851-2A>C | ENSP00000514561.1:n.1851-2A>C | |
| ENST00000699753.1:c.*1428-2A>C | ENSP00000514562.1:n.*1428-2A>C | |
| ENST00000699754.1:c.1809-2A>C | ENSP00000514563.1:n.1809-2A>C | |
| ENST00000699755.1:c.*1406-2A>C | ENSP00000514564.1:n.*1406-2A>C | |
| ENST00000699756.1:c.*1594-2A>C | ENSP00000514565.1:n.*1594-2A>C | |
| ENST00000699757.1:c.*1264-2A>C | ENSP00000514566.1:n.*1264-2A>C | |
| ENST00000699758.1:c.*1264-2A>C | ENSP00000514567.1:n.*1264-2A>C | |
| ENST00000699759.1:n.2861-2A>C | ||
| ENST00000699760.1:c.1689-2A>C | ENSP00000514568.1:n.1689-2A>C | |
| ENST00000699761.1:c.1602-2A>C | ENSP00000514569.1:n.1602-2A>C | |
| ENST00000699762.1:c.1434-2A>C | ENSP00000514570.1:n.1434-2A>C | |
| ENST00000699763.1:c.*1097-2A>C | ENSP00000514571.1:n.*1097-2A>C | |
| ENST00000699764.1:c.*325-2A>C | ENSP00000514572.1:n.*325-2A>C | |
| ENST00000699765.1:c.*1103-2A>C | ENSP00000514573.1:n.*1103-2A>C | |
| ENST00000699766.1:c.2007-2A>C | ENSP00000514574.1:n.2007-2A>C | |
| ENST00000699767.1:c.2007-2A>C | ENSP00000514575.1:n.2007-2A>C | |
| ENST00000699768.1:c.2007-2A>C | ENSP00000514576.1:n.2007-2A>C | |
| ENST00000699811.1:c.1602-2A>C | ENSP00000514614.1:n.1602-2A>C | |
| ENST00000699813.1:n.2120-2A>C | ||
| ENST00000699814.1:c.1630-2A>C | ||
| ENST00000699815.1:c.*1538-2A>C | ENSP00000514616.1:n.*1538-2A>C | |
| ENST00000699816.1:c.*897-2A>C | ENSP00000514617.1:n.*897-2A>C | |
| ENST00000699817.1:c.*1601-2A>C | ENSP00000514618.1:n.*1601-2A>C | |
| ENST00000699818.1:c.1602-2A>C | ENSP00000514619.1:n.1602-2A>C | |
| ENST00000699819.1:c.*1164-2A>C | ENSP00000514620.1:n.*1164-2A>C | |
| ENST00000699820.1:c.1145-2A>C | ENSP00000514621.1:n.1145-2A>C | |
| ENST00000699821.1:c.1602-2A>C | ENSP00000514622.1:n.1602-2A>C | |
| ENST00000699822.1:c.*1459-2A>C | ENSP00000514623.1:n.*1459-2A>C | |
| ENST00000699823.1:c.1602-2A>C | ENSP00000514624.1:n.1602-2A>C | |
| ENST00000699824.1:c.*1510-2A>C | ENSP00000514625.1:n.*1510-2A>C | |
| ENST00000699825.1:c.1446-2A>C | ENSP00000514626.1:n.1446-2A>C | |
| ENST00000699826.1:c.*1406-2A>C | ENSP00000514627.1:n.*1406-2A>C | |
| ENST00000699827.1:c.1839-2A>C | ENSP00000514628.1:n.1839-2A>C | |
| ENST00000699828.1:c.*1097-2A>C | ENSP00000514629.1:n.*1097-2A>C | |
| ENST00000699833.1:n.3779-2A>C | ||
| ENST00000699837.1:c.1602-2A>C | ENSP00000514635.1:n.1602-2A>C | |
| ENST00000699838.1:c.*1907-2A>C | ENSP00000514636.1:n.*1907-2A>C | |
| ENST00000699839.1:c.2193-2A>C | ENSP00000514637.1:n.2193-2A>C | |
| ENST00000699916.1:c.*1264-2A>C | ENSP00000514684.1:n.*1264-2A>C | |
| ENST00000699917.1:c.*1456-2A>C | ENSP00000514685.1:n.*1456-2A>C | |
| ENST00000699918.1:c.*1508-2A>C | ENSP00000514686.1:n.*1508-2A>C | |
| ENST00000699919.1:c.*1594-2A>C | ENSP00000514687.1:n.*1594-2A>C | |
| ENST00000699920.1:c.*1643-2A>C | ENSP00000514688.1:n.*1643-2A>C | |
| ENST00000699928.1:c.989-2A>C | ENSP00000514693.1:n.989-2A>C | |
| ENST00000699951.1:c.*1103-2A>C | ENSP00000514706.1:n.*1103-2A>C | |
| ENST00000699952.1:c.804-9451A>C | ENSP00000514707.1:n.804-9451A>C | |
| ENST00000265849.12:c.2007-2A>C MANE Select | ENSP00000265849.7:n.2007-2A>C | |
| ENST00000642292.1:c.1602-2A>C | ENSP00000495524.1:n.1602-2A>C | |
| ENST00000642456.1:c.1602-2A>C | ENSP00000493814.1:n.1602-2A>C | |
| ENST00000643595.1:c.*1406-2A>C | ENSP00000494497.1:n.*1406-2A>C | |
| ENST00000644110.1:c.1689-2A>C | ENSP00000496392.1:n.1689-2A>C | |
| ENST00000265849.11:c.2007-2A>C | ENSP00000265849.7:n.2007-2A>C | |
| ENST00000382321.5:c.804-2A>C | ENSP00000371758.4:n.804-2A>C | |
| ENST00000406569.7:n.1678+4094A>C | ||
| ENST00000441476.6:c.1689-2A>C | ENSP00000392843.2:n.1689-2A>C | |
| ENST00000469652.1:n.63-88A>C | ||
| NM_000535.5:c.2007-2A>C , LRG_161t1:c.2007-2A>C | NP_000526.1:n.2007-2A>C | |
| NR_003085.2:n.2089-2A>C | ||
| XM_006715742.2:c.2001-2A>C | XP_006715805.1:n.2001-2A>C | |
| XM_006715744.2:c.1074-2A>C | XP_006715807.1:n.1074-2A>C | |
| XM_011515427.1:c.2052-2A>C | XP_011513729.1:n.2052-2A>C | |
| XM_011515428.1:c.1896-2A>C | XP_011513730.1:n.1896-2A>C | |
| XM_011515429.1:c.1689-2A>C | XP_011513731.1:n.1689-2A>C | |
| XM_011515430.1:c.1689-2A>C | XP_011513732.1:n.1689-2A>C | |
| NM_000535.6:c.2007-2A>C | NP_000526.2:n.2007-2A>C | |
| NM_001322003.1:c.1602-2A>C | NP_001308932.1:n.1602-2A>C | |
| NM_001322004.1:c.1602-2A>C | NP_001308933.1:n.1602-2A>C | |
| NM_001322005.1:c.1602-2A>C | NP_001308934.1:n.1602-2A>C | |
| NM_001322006.1:c.1851-2A>C | NP_001308935.1:n.1851-2A>C | |
| NM_001322007.1:c.1689-2A>C | NP_001308936.1:n.1689-2A>C | |
| NM_001322008.1:c.1689-2A>C | NP_001308937.1:n.1689-2A>C | |
| NM_001322009.1:c.1602-2A>C | NP_001308938.1:n.1602-2A>C | |
| NM_001322010.1:c.1446-2A>C | NP_001308939.1:n.1446-2A>C | |
| NM_001322011.1:c.1074-2A>C | NP_001308940.1:n.1074-2A>C | |
| NM_001322012.1:c.1074-2A>C | NP_001308941.1:n.1074-2A>C | |
| NM_001322013.1:c.1434-2A>C | NP_001308942.1:n.1434-2A>C | |
| NM_001322014.1:c.2007-2A>C | NP_001308943.1:n.2007-2A>C | |
| NM_001322015.1:c.1698-2A>C | NP_001308944.1:n.1698-2A>C | |
| NR_136154.1:n.2094-2A>C | ||
| XM_006715744.4:c.1074-2A>C | XP_006715807.1:n.1074-2A>C | |
| XM_017012342.2:c.1074-2A>C | XP_016867831.1:n.1074-2A>C | |
| XM_024446800.1:c.1446-2A>C | XP_024302568.1:n.1446-2A>C | |
| NM_000535.7:c.2007-2A>C MANE Select | NP_000526.2:n.2007-2A>C | |
| NM_001322003.2:c.1602-2A>C | NP_001308932.1:n.1602-2A>C | |
| NM_001322004.2:c.1602-2A>C | NP_001308933.1:n.1602-2A>C | |
| NM_001322005.2:c.1602-2A>C | NP_001308934.1:n.1602-2A>C | |
| NM_001322006.2:c.1851-2A>C | NP_001308935.1:n.1851-2A>C | |
| NM_001322008.2:c.1689-2A>C | NP_001308937.1:n.1689-2A>C | |
| NM_001322009.2:c.1602-2A>C | NP_001308938.1:n.1602-2A>C | |
| NM_001322010.2:c.1446-2A>C | NP_001308939.1:n.1446-2A>C | |
| NM_001322011.2:c.1074-2A>C | NP_001308940.1:n.1074-2A>C | |
| NM_001322012.2:c.1074-2A>C | NP_001308941.1:n.1074-2A>C | |
| NM_001322013.2:c.1434-2A>C | NP_001308942.1:n.1434-2A>C | |
| NM_001322014.2:c.2007-2A>C | NP_001308943.1:n.2007-2A>C | |
| NM_001322015.2:c.1698-2A>C | NP_001308944.1:n.1698-2A>C | |
| NM_001322007.2:c.1689-2A>C | NP_001308936.1:n.1689-2A>C |