Linked Data
ClinVar Variation Id:
411077
dbSNP Id:
rs763866879
ExAC:
7:6022528 G / A
gnomAD v2:
7-6022528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5982897G>A , CM000669.2:g.5982897G>A | GRCh38 |
| NC_000007.13:g.6022528G>A , CM000669.1:g.6022528G>A | GRCh37 |
| NC_000007.12:g.5989054G>A | NCBI36 |
| NG_008466.1:g.31210C>T , LRG_161:g.31210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1497C>T | ENSP00000514615.2:n.*1497C>T | |
| ENST00000699840.2:c.2098C>T | ENSP00000514638.2:p.His700Tyr | |
| ENST00000699930.2:c.1993C>T | ENSP00000514695.2:p.His665Tyr | |
| ENST00000406569.8:c.1678+4190C>T | ENSP00000514464.1:n.1678+4190C>T | |
| ENST00000644110.2:c.*1695C>T | ENSP00000496392.2:n.*1695C>T | |
| ENST00000699752.1:c.1945C>T | ENSP00000514561.1:p.His649Tyr | |
| ENST00000699753.1:c.*1522C>T | ENSP00000514562.1:n.*1522C>T | |
| ENST00000699754.1:c.1903C>T | ENSP00000514563.1:p.His635Tyr | |
| ENST00000699755.1:c.*1500C>T | ENSP00000514564.1:n.*1500C>T | |
| ENST00000699756.1:c.*1688C>T | ENSP00000514565.1:n.*1688C>T | |
| ENST00000699757.1:c.*1358C>T | ENSP00000514566.1:n.*1358C>T | |
| ENST00000699758.1:c.*1358C>T | ENSP00000514567.1:n.*1358C>T | |
| ENST00000699759.1:n.2955C>T | ||
| ENST00000699760.1:c.1783C>T | ENSP00000514568.1:p.His595Tyr | |
| ENST00000699761.1:c.1696C>T | ENSP00000514569.1:p.His566Tyr | |
| ENST00000699762.1:c.1528C>T | ENSP00000514570.1:p.His510Tyr | |
| ENST00000699763.1:c.*1191C>T | ENSP00000514571.1:n.*1191C>T | |
| ENST00000699764.1:c.*419C>T | ENSP00000514572.1:n.*419C>T | |
| ENST00000699765.1:c.*1197C>T | ENSP00000514573.1:n.*1197C>T | |
| ENST00000699766.1:c.2101C>T | ENSP00000514574.1:p.His701Tyr | |
| ENST00000699767.1:c.2101C>T | ENSP00000514575.1:p.His701Tyr | |
| ENST00000699768.1:c.2101C>T | ENSP00000514576.1:p.His701Tyr | |
| ENST00000699811.1:c.1696C>T | ENSP00000514614.1:p.His566Tyr | |
| ENST00000699813.1:n.2214C>T | ||
| ENST00000699814.1:c.1724C>T | ||
| ENST00000699815.1:c.*1632C>T | ENSP00000514616.1:n.*1632C>T | |
| ENST00000699816.1:c.*991C>T | ENSP00000514617.1:n.*991C>T | |
| ENST00000699817.1:c.*1695C>T | ENSP00000514618.1:n.*1695C>T | |
| ENST00000699818.1:c.1696C>T | ENSP00000514619.1:p.His566Tyr | |
| ENST00000699819.1:c.*1258C>T | ENSP00000514620.1:n.*1258C>T | |
| ENST00000699820.1:c.*39C>T | ENSP00000514621.1:n.*39C>T | |
| ENST00000699821.1:c.1696C>T | ENSP00000514622.1:p.His566Tyr | |
| ENST00000699822.1:c.*1553C>T | ENSP00000514623.1:n.*1553C>T | |
| ENST00000699823.1:c.1696C>T | ENSP00000514624.1:p.His566Tyr | |
| ENST00000699824.1:c.*1604C>T | ENSP00000514625.1:n.*1604C>T | |
| ENST00000699825.1:c.1540C>T | ENSP00000514626.1:p.His514Tyr | |
| ENST00000699826.1:c.*1500C>T | ENSP00000514627.1:n.*1500C>T | |
| ENST00000699827.1:c.1933C>T | ENSP00000514628.1:p.His645Tyr | |
| ENST00000699828.1:c.*1191C>T | ENSP00000514629.1:n.*1191C>T | |
| ENST00000699833.1:n.3873C>T | ||
| ENST00000699837.1:c.1696C>T | ENSP00000514635.1:p.His566Tyr | |
| ENST00000699838.1:c.*2001C>T | ENSP00000514636.1:n.*2001C>T | |
| ENST00000699839.1:c.2287C>T | ENSP00000514637.1:p.His763Tyr | |
| ENST00000699916.1:c.*1358C>T | ENSP00000514684.1:n.*1358C>T | |
| ENST00000699917.1:c.*1550C>T | ENSP00000514685.1:n.*1550C>T | |
| ENST00000699918.1:c.*1602C>T | ENSP00000514686.1:n.*1602C>T | |
| ENST00000699919.1:c.*1688C>T | ENSP00000514687.1:n.*1688C>T | |
| ENST00000699920.1:c.*1737C>T | ENSP00000514688.1:n.*1737C>T | |
| ENST00000699928.1:c.*39C>T | ENSP00000514693.1:n.*39C>T | |
| ENST00000699951.1:c.*1197C>T | ENSP00000514706.1:n.*1197C>T | |
| ENST00000699952.1:c.804-9355C>T | ENSP00000514707.1:n.804-9355C>T | |
| ENST00000265849.12:c.2101C>T MANE Select | ENSP00000265849.7:p.His701Tyr | |
| ENST00000642292.1:c.1696C>T | ENSP00000495524.1:p.His566Tyr | |
| ENST00000642456.1:c.1696C>T | ENSP00000493814.1:p.His566Tyr | |
| ENST00000643595.1:c.*1500C>T | ENSP00000494497.1:n.*1500C>T | |
| ENST00000644110.1:c.1783C>T | ENSP00000496392.1:p.His595Tyr | |
| ENST00000265849.11:c.2101C>T | ENSP00000265849.7:p.His701Tyr | |
| ENST00000382321.5:c.898C>T | ENSP00000371758.4:p.His300Tyr | |
| ENST00000406569.7:n.1678+4190C>T | ||
| ENST00000441476.6:c.1783C>T | ENSP00000392843.2:p.His595Tyr | |
| ENST00000469652.1:n.71C>T | ||
| NM_000535.5:c.2101C>T , LRG_161t1:c.2101C>T | NP_000526.1:p.His701Tyr | |
| NR_003085.2:n.2183C>T | ||
| XM_006715742.2:c.2095C>T | XP_006715805.1:p.His699Tyr | |
| XM_006715744.2:c.1168C>T | XP_006715807.1:p.His390Tyr | |
| XM_011515427.1:c.2146C>T | XP_011513729.1:p.His716Tyr | |
| XM_011515428.1:c.1990C>T | XP_011513730.1:p.His664Tyr | |
| XM_011515429.1:c.1783C>T | XP_011513731.1:p.His595Tyr | |
| XM_011515430.1:c.1783C>T | XP_011513732.1:p.His595Tyr | |
| NM_000535.6:c.2101C>T | NP_000526.2:p.His701Tyr | |
| NM_001322003.1:c.1696C>T | NP_001308932.1:p.His566Tyr | |
| NM_001322004.1:c.1696C>T | NP_001308933.1:p.His566Tyr | |
| NM_001322005.1:c.1696C>T | NP_001308934.1:p.His566Tyr | |
| NM_001322006.1:c.1945C>T | NP_001308935.1:p.His649Tyr | |
| NM_001322007.1:c.1783C>T | NP_001308936.1:p.His595Tyr | |
| NM_001322008.1:c.1783C>T | NP_001308937.1:p.His595Tyr | |
| NM_001322009.1:c.1696C>T | NP_001308938.1:p.His566Tyr | |
| NM_001322010.1:c.1540C>T | NP_001308939.1:p.His514Tyr | |
| NM_001322011.1:c.1168C>T | NP_001308940.1:p.His390Tyr | |
| NM_001322012.1:c.1168C>T | NP_001308941.1:p.His390Tyr | |
| NM_001322013.1:c.1528C>T | NP_001308942.1:p.His510Tyr | |
| NM_001322014.1:c.2101C>T | NP_001308943.1:p.His701Tyr | |
| NM_001322015.1:c.1792C>T | NP_001308944.1:p.His598Tyr | |
| NR_136154.1:n.2188C>T | ||
| XM_006715744.4:c.1168C>T | XP_006715807.1:p.His390Tyr | |
| XM_017012342.2:c.1168C>T | XP_016867831.1:p.His390Tyr | |
| XM_024446800.1:c.1540C>T | XP_024302568.1:p.His514Tyr | |
| NM_000535.7:c.2101C>T MANE Select | NP_000526.2:p.His701Tyr | |
| NM_001322003.2:c.1696C>T | NP_001308932.1:p.His566Tyr | |
| NM_001322004.2:c.1696C>T | NP_001308933.1:p.His566Tyr | |
| NM_001322005.2:c.1696C>T | NP_001308934.1:p.His566Tyr | |
| NM_001322006.2:c.1945C>T | NP_001308935.1:p.His649Tyr | |
| NM_001322008.2:c.1783C>T | NP_001308937.1:p.His595Tyr | |
| NM_001322009.2:c.1696C>T | NP_001308938.1:p.His566Tyr | |
| NM_001322010.2:c.1540C>T | NP_001308939.1:p.His514Tyr | |
| NM_001322011.2:c.1168C>T | NP_001308940.1:p.His390Tyr | |
| NM_001322012.2:c.1168C>T | NP_001308941.1:p.His390Tyr | |
| NM_001322013.2:c.1528C>T | NP_001308942.1:p.His510Tyr | |
| NM_001322014.2:c.2101C>T | NP_001308943.1:p.His701Tyr | |
| NM_001322015.2:c.1792C>T | NP_001308944.1:p.His598Tyr | |
| NM_001322007.2:c.1783C>T | NP_001308936.1:p.His595Tyr |