Linked Data
ClinVar Variation Id:
91304
ClinVar RCV Id:
RCV000076812
RCV000128937
RCV000174012
RCV000625503
RCV000756560
RCV001354144
RCV001682757
RCV001798272
dbSNP Id:
rs1805320
ExAC:
7:6026908 G / A
gnomAD v2:
7-6026908-G-A
gnomAD v3:
7-5987277-G-A
gnomAD v4:
7-5987277-G-A
PubMed:
PMID:10479499
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987277G>A , CM000669.2:g.5987277G>A | GRCh38 |
| NC_000007.13:g.6026908G>A , CM000669.1:g.6026908G>A | GRCh37 |
| NC_000007.12:g.5993434G>A | NCBI36 |
| NG_008466.1:g.26830C>T , LRG_161:g.26830C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*884C>T | ENSP00000514615.2:n.*884C>T | |
| ENST00000699840.2:c.1485C>T | ENSP00000514638.2:p.His495= | |
| ENST00000699930.2:c.1380C>T | ENSP00000514695.2:p.His460= | |
| ENST00000406569.8:c.1488C>T | ENSP00000514464.1:p.His496= | |
| ENST00000644110.2:c.*1082C>T | ENSP00000496392.2:n.*1082C>T | |
| ENST00000699752.1:c.1332C>T | ENSP00000514561.1:p.His444= | |
| ENST00000699753.1:c.*909C>T | ENSP00000514562.1:n.*909C>T | |
| ENST00000699754.1:c.1290C>T | ENSP00000514563.1:p.His430= | |
| ENST00000699755.1:c.*887C>T | ENSP00000514564.1:n.*887C>T | |
| ENST00000699756.1:c.*1075C>T | ENSP00000514565.1:n.*1075C>T | |
| ENST00000699757.1:c.*745C>T | ENSP00000514566.1:n.*745C>T | |
| ENST00000699758.1:c.*745C>T | ENSP00000514567.1:n.*745C>T | |
| ENST00000699759.1:n.2342C>T | ||
| ENST00000699760.1:c.1170C>T | ENSP00000514568.1:p.His390= | |
| ENST00000699761.1:c.1083C>T | ENSP00000514569.1:p.His361= | |
| ENST00000699762.1:c.915C>T | ENSP00000514570.1:p.His305= | |
| ENST00000699763.1:c.*578C>T | ENSP00000514571.1:n.*578C>T | |
| ENST00000699764.1:c.1488C>T | ENSP00000514572.1:p.His496= | |
| ENST00000699765.1:c.*584C>T | ENSP00000514573.1:n.*584C>T | |
| ENST00000699766.1:c.1488C>T | ENSP00000514574.1:p.His496= | |
| ENST00000699767.1:c.1488C>T | ENSP00000514575.1:p.His496= | |
| ENST00000699768.1:c.1488C>T | ENSP00000514576.1:p.His496= | |
| ENST00000699811.1:c.1083C>T | ENSP00000514614.1:p.His361= | |
| ENST00000699813.1:n.1601C>T | ||
| ENST00000699814.1:c.1111C>T | ||
| ENST00000699815.1:c.*1019C>T | ENSP00000514616.1:n.*1019C>T | |
| ENST00000699816.1:c.*378C>T | ENSP00000514617.1:n.*378C>T | |
| ENST00000699817.1:c.*1082C>T | ENSP00000514618.1:n.*1082C>T | |
| ENST00000699818.1:c.1083C>T | ENSP00000514619.1:p.His361= | |
| ENST00000699819.1:c.*645C>T | ENSP00000514620.1:n.*645C>T | |
| ENST00000699820.1:c.1144+2523C>T | ENSP00000514621.1:n.1144+2523C>T | |
| ENST00000699821.1:c.1083C>T | ENSP00000514622.1:p.His361= | |
| ENST00000699822.1:c.*940C>T | ENSP00000514623.1:n.*940C>T | |
| ENST00000699823.1:c.1083C>T | ENSP00000514624.1:p.His361= | |
| ENST00000699824.1:c.*991C>T | ENSP00000514625.1:n.*991C>T | |
| ENST00000699825.1:c.927C>T | ENSP00000514626.1:p.His309= | |
| ENST00000699826.1:c.*887C>T | ENSP00000514627.1:n.*887C>T | |
| ENST00000699827.1:c.1320C>T | ENSP00000514628.1:p.His440= | |
| ENST00000699828.1:c.*578C>T | ENSP00000514629.1:n.*578C>T | |
| ENST00000699833.1:n.3260C>T | ||
| ENST00000699837.1:c.1083C>T | ENSP00000514635.1:p.His361= | |
| ENST00000699838.1:c.*1388C>T | ENSP00000514636.1:n.*1388C>T | |
| ENST00000699839.1:c.1674C>T | ENSP00000514637.1:p.His558= | |
| ENST00000699916.1:c.*745C>T | ENSP00000514684.1:n.*745C>T | |
| ENST00000699917.1:c.*937C>T | ENSP00000514685.1:n.*937C>T | |
| ENST00000699918.1:c.*989C>T | ENSP00000514686.1:n.*989C>T | |
| ENST00000699919.1:c.*1075C>T | ENSP00000514687.1:n.*1075C>T | |
| ENST00000699920.1:c.*1124C>T | ENSP00000514688.1:n.*1124C>T | |
| ENST00000699928.1:c.989-4286C>T | ENSP00000514693.1:n.989-4286C>T | |
| ENST00000699929.1:c.*789C>T | ENSP00000514694.1:n.*789C>T | |
| ENST00000699930.1:c.1380C>T | ENSP00000514695.1:p.His460= | |
| ENST00000699931.1:n.2916C>T | ||
| ENST00000699951.1:c.*584C>T | ENSP00000514706.1:n.*584C>T | |
| ENST00000699952.1:c.803+10049C>T | ENSP00000514707.1:n.803+10049C>T | |
| ENST00000699953.1:c.*595C>T | ENSP00000514708.1:n.*595C>T | |
| ENST00000699954.1:c.*789C>T | ENSP00000514709.1:n.*789C>T | |
| ENST00000265849.12:c.1488C>T MANE Select | ENSP00000265849.7:p.His496= | |
| ENST00000642292.1:c.1083C>T | ENSP00000495524.1:p.His361= | |
| ENST00000642456.1:c.1083C>T | ENSP00000493814.1:p.His361= | |
| ENST00000643595.1:c.*887C>T | ENSP00000494497.1:n.*887C>T | |
| ENST00000644110.1:c.1170C>T | ENSP00000496392.1:p.His390= | |
| ENST00000265849.11:c.1488C>T | ENSP00000265849.7:p.His496= | |
| ENST00000382321.5:c.804-4286C>T | ENSP00000371758.4:n.804-4286C>T | |
| ENST00000406569.7:n.1488C>T | ||
| ENST00000441476.6:c.1170C>T | ENSP00000392843.2:p.His390= | |
| ENST00000469652.1:n.63-4372C>T | ||
| NM_000535.5:c.1488C>T , LRG_161t1:c.1488C>T | NP_000526.1:p.His496= | |
| NR_003085.2:n.1570C>T | ||
| XM_006715742.2:c.1482C>T | XP_006715805.1:p.His494= | |
| XM_006715744.2:c.555C>T | XP_006715807.1:p.His185= | |
| XM_011515427.1:c.1533C>T | XP_011513729.1:p.His511= | |
| XM_011515428.1:c.1377C>T | XP_011513730.1:p.His459= | |
| XM_011515429.1:c.1170C>T | XP_011513731.1:p.His390= | |
| XM_011515430.1:c.1170C>T | XP_011513732.1:p.His390= | |
| NM_000535.6:c.1488C>T | NP_000526.2:p.His496= | |
| NM_001322003.1:c.1083C>T | NP_001308932.1:p.His361= | |
| NM_001322004.1:c.1083C>T | NP_001308933.1:p.His361= | |
| NM_001322005.1:c.1083C>T | NP_001308934.1:p.His361= | |
| NM_001322006.1:c.1332C>T | NP_001308935.1:p.His444= | |
| NM_001322007.1:c.1170C>T | NP_001308936.1:p.His390= | |
| NM_001322008.1:c.1170C>T | NP_001308937.1:p.His390= | |
| NM_001322009.1:c.1083C>T | NP_001308938.1:p.His361= | |
| NM_001322010.1:c.927C>T | NP_001308939.1:p.His309= | |
| NM_001322011.1:c.555C>T | NP_001308940.1:p.His185= | |
| NM_001322012.1:c.555C>T | NP_001308941.1:p.His185= | |
| NM_001322013.1:c.915C>T | NP_001308942.1:p.His305= | |
| NM_001322014.1:c.1488C>T | NP_001308943.1:p.His496= | |
| NM_001322015.1:c.1179C>T | NP_001308944.1:p.His393= | |
| NR_136154.1:n.1575C>T | ||
| XM_006715744.4:c.555C>T | XP_006715807.1:p.His185= | |
| XM_017012342.2:c.555C>T | XP_016867831.1:p.His185= | |
| XM_024446800.1:c.927C>T | XP_024302568.1:p.His309= | |
| NM_000535.7:c.1488C>T MANE Select | NP_000526.2:p.His496= | |
| NM_001322003.2:c.1083C>T | NP_001308932.1:p.His361= | |
| NM_001322004.2:c.1083C>T | NP_001308933.1:p.His361= | |
| NM_001322005.2:c.1083C>T | NP_001308934.1:p.His361= | |
| NM_001322006.2:c.1332C>T | NP_001308935.1:p.His444= | |
| NM_001322008.2:c.1170C>T | NP_001308937.1:p.His390= | |
| NM_001322009.2:c.1083C>T | NP_001308938.1:p.His361= | |
| NM_001322010.2:c.927C>T | NP_001308939.1:p.His309= | |
| NM_001322011.2:c.555C>T | NP_001308940.1:p.His185= | |
| NM_001322012.2:c.555C>T | NP_001308941.1:p.His185= | |
| NM_001322013.2:c.915C>T | NP_001308942.1:p.His305= | |
| NM_001322014.2:c.1488C>T | NP_001308943.1:p.His496= | |
| NM_001322015.2:c.1179C>T | NP_001308944.1:p.His393= | |
| NM_001322007.2:c.1170C>T | NP_001308936.1:p.His390= |