Linked Data
ClinVar Variation Id:
184622
dbSNP Id:
rs752950007
ExAC:
7:6022580 G / A
gnomAD v2:
7-6022580-G-A
gnomAD v3:
7-5982949-G-A
gnomAD v4:
7-5982949-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5982949G>A , CM000669.2:g.5982949G>A | GRCh38 |
| NC_000007.13:g.6022580G>A , CM000669.1:g.6022580G>A | GRCh37 |
| NC_000007.12:g.5989106G>A | NCBI36 |
| NG_008466.1:g.31158C>T , LRG_161:g.31158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1445C>T | ENSP00000514615.2:n.*1445C>T | |
| ENST00000699840.2:c.2046C>T | ENSP00000514638.2:p.Asn682= | |
| ENST00000699930.2:c.1941C>T | ENSP00000514695.2:p.Asn647= | |
| ENST00000406569.8:c.1678+4138C>T | ENSP00000514464.1:n.1678+4138C>T | |
| ENST00000644110.2:c.*1643C>T | ENSP00000496392.2:n.*1643C>T | |
| ENST00000699752.1:c.1893C>T | ENSP00000514561.1:p.Asn631= | |
| ENST00000699753.1:c.*1470C>T | ENSP00000514562.1:n.*1470C>T | |
| ENST00000699754.1:c.1851C>T | ENSP00000514563.1:p.Asn617= | |
| ENST00000699755.1:c.*1448C>T | ENSP00000514564.1:n.*1448C>T | |
| ENST00000699756.1:c.*1636C>T | ENSP00000514565.1:n.*1636C>T | |
| ENST00000699757.1:c.*1306C>T | ENSP00000514566.1:n.*1306C>T | |
| ENST00000699758.1:c.*1306C>T | ENSP00000514567.1:n.*1306C>T | |
| ENST00000699759.1:n.2903C>T | ||
| ENST00000699760.1:c.1731C>T | ENSP00000514568.1:p.Asn577= | |
| ENST00000699761.1:c.1644C>T | ENSP00000514569.1:p.Asn548= | |
| ENST00000699762.1:c.1476C>T | ENSP00000514570.1:p.Asn492= | |
| ENST00000699763.1:c.*1139C>T | ENSP00000514571.1:n.*1139C>T | |
| ENST00000699764.1:c.*367C>T | ENSP00000514572.1:n.*367C>T | |
| ENST00000699765.1:c.*1145C>T | ENSP00000514573.1:n.*1145C>T | |
| ENST00000699766.1:c.2049C>T | ENSP00000514574.1:p.Asn683= | |
| ENST00000699767.1:c.2049C>T | ENSP00000514575.1:p.Asn683= | |
| ENST00000699768.1:c.2049C>T | ENSP00000514576.1:p.Asn683= | |
| ENST00000699811.1:c.1644C>T | ENSP00000514614.1:p.Asn548= | |
| ENST00000699813.1:n.2162C>T | ||
| ENST00000699814.1:c.1672C>T | ||
| ENST00000699815.1:c.*1580C>T | ENSP00000514616.1:n.*1580C>T | |
| ENST00000699816.1:c.*939C>T | ENSP00000514617.1:n.*939C>T | |
| ENST00000699817.1:c.*1643C>T | ENSP00000514618.1:n.*1643C>T | |
| ENST00000699818.1:c.1644C>T | ENSP00000514619.1:p.Asn548= | |
| ENST00000699819.1:c.*1206C>T | ENSP00000514620.1:n.*1206C>T | |
| ENST00000699820.1:c.1187C>T | ENSP00000514621.1:p.Thr396Ile | |
| ENST00000699821.1:c.1644C>T | ENSP00000514622.1:p.Asn548= | |
| ENST00000699822.1:c.*1501C>T | ENSP00000514623.1:n.*1501C>T | |
| ENST00000699823.1:c.1644C>T | ENSP00000514624.1:p.Asn548= | |
| ENST00000699824.1:c.*1552C>T | ENSP00000514625.1:n.*1552C>T | |
| ENST00000699825.1:c.1488C>T | ENSP00000514626.1:p.Asn496= | |
| ENST00000699826.1:c.*1448C>T | ENSP00000514627.1:n.*1448C>T | |
| ENST00000699827.1:c.1881C>T | ENSP00000514628.1:p.Asn627= | |
| ENST00000699828.1:c.*1139C>T | ENSP00000514629.1:n.*1139C>T | |
| ENST00000699833.1:n.3821C>T | ||
| ENST00000699837.1:c.1644C>T | ENSP00000514635.1:p.Asn548= | |
| ENST00000699838.1:c.*1949C>T | ENSP00000514636.1:n.*1949C>T | |
| ENST00000699839.1:c.2235C>T | ENSP00000514637.1:p.Asn745= | |
| ENST00000699916.1:c.*1306C>T | ENSP00000514684.1:n.*1306C>T | |
| ENST00000699917.1:c.*1498C>T | ENSP00000514685.1:n.*1498C>T | |
| ENST00000699918.1:c.*1550C>T | ENSP00000514686.1:n.*1550C>T | |
| ENST00000699919.1:c.*1636C>T | ENSP00000514687.1:n.*1636C>T | |
| ENST00000699920.1:c.*1685C>T | ENSP00000514688.1:n.*1685C>T | |
| ENST00000699928.1:c.1031C>T | ENSP00000514693.1:p.Thr344Ile | |
| ENST00000699951.1:c.*1145C>T | ENSP00000514706.1:n.*1145C>T | |
| ENST00000699952.1:c.804-9407C>T | ENSP00000514707.1:n.804-9407C>T | |
| ENST00000265849.12:c.2049C>T MANE Select | ENSP00000265849.7:p.Asn683= | |
| ENST00000642292.1:c.1644C>T | ENSP00000495524.1:p.Asn548= | |
| ENST00000642456.1:c.1644C>T | ENSP00000493814.1:p.Asn548= | |
| ENST00000643595.1:c.*1448C>T | ENSP00000494497.1:n.*1448C>T | |
| ENST00000644110.1:c.1731C>T | ENSP00000496392.1:p.Asn577= | |
| ENST00000265849.11:c.2049C>T | ENSP00000265849.7:p.Asn683= | |
| ENST00000382321.5:c.846C>T | ENSP00000371758.4:p.Asn282= | |
| ENST00000406569.7:n.1678+4138C>T | ||
| ENST00000441476.6:c.1731C>T | ENSP00000392843.2:p.Asn577= | |
| ENST00000469652.1:n.63-44C>T | ||
| NM_000535.5:c.2049C>T , LRG_161t1:c.2049C>T | NP_000526.1:p.Asn683= | |
| NR_003085.2:n.2131C>T | ||
| XM_006715742.2:c.2043C>T | XP_006715805.1:p.Asn681= | |
| XM_006715744.2:c.1116C>T | XP_006715807.1:p.Asn372= | |
| XM_011515427.1:c.2094C>T | XP_011513729.1:p.Asn698= | |
| XM_011515428.1:c.1938C>T | XP_011513730.1:p.Asn646= | |
| XM_011515429.1:c.1731C>T | XP_011513731.1:p.Asn577= | |
| XM_011515430.1:c.1731C>T | XP_011513732.1:p.Asn577= | |
| NM_000535.6:c.2049C>T | NP_000526.2:p.Asn683= | |
| NM_001322003.1:c.1644C>T | NP_001308932.1:p.Asn548= | |
| NM_001322004.1:c.1644C>T | NP_001308933.1:p.Asn548= | |
| NM_001322005.1:c.1644C>T | NP_001308934.1:p.Asn548= | |
| NM_001322006.1:c.1893C>T | NP_001308935.1:p.Asn631= | |
| NM_001322007.1:c.1731C>T | NP_001308936.1:p.Asn577= | |
| NM_001322008.1:c.1731C>T | NP_001308937.1:p.Asn577= | |
| NM_001322009.1:c.1644C>T | NP_001308938.1:p.Asn548= | |
| NM_001322010.1:c.1488C>T | NP_001308939.1:p.Asn496= | |
| NM_001322011.1:c.1116C>T | NP_001308940.1:p.Asn372= | |
| NM_001322012.1:c.1116C>T | NP_001308941.1:p.Asn372= | |
| NM_001322013.1:c.1476C>T | NP_001308942.1:p.Asn492= | |
| NM_001322014.1:c.2049C>T | NP_001308943.1:p.Asn683= | |
| NM_001322015.1:c.1740C>T | NP_001308944.1:p.Asn580= | |
| NR_136154.1:n.2136C>T | ||
| XM_006715744.4:c.1116C>T | XP_006715807.1:p.Asn372= | |
| XM_017012342.2:c.1116C>T | XP_016867831.1:p.Asn372= | |
| XM_024446800.1:c.1488C>T | XP_024302568.1:p.Asn496= | |
| NM_000535.7:c.2049C>T MANE Select | NP_000526.2:p.Asn683= | |
| NM_001322003.2:c.1644C>T | NP_001308932.1:p.Asn548= | |
| NM_001322004.2:c.1644C>T | NP_001308933.1:p.Asn548= | |
| NM_001322005.2:c.1644C>T | NP_001308934.1:p.Asn548= | |
| NM_001322006.2:c.1893C>T | NP_001308935.1:p.Asn631= | |
| NM_001322008.2:c.1731C>T | NP_001308937.1:p.Asn577= | |
| NM_001322009.2:c.1644C>T | NP_001308938.1:p.Asn548= | |
| NM_001322010.2:c.1488C>T | NP_001308939.1:p.Asn496= | |
| NM_001322011.2:c.1116C>T | NP_001308940.1:p.Asn372= | |
| NM_001322012.2:c.1116C>T | NP_001308941.1:p.Asn372= | |
| NM_001322013.2:c.1476C>T | NP_001308942.1:p.Asn492= | |
| NM_001322014.2:c.2049C>T | NP_001308943.1:p.Asn683= | |
| NM_001322015.2:c.1740C>T | NP_001308944.1:p.Asn580= | |
| NM_001322007.2:c.1731C>T | NP_001308936.1:p.Asn577= |