Linked Data
ClinVar Variation Id:
127769
ClinVar RCV Id:
RCV000115669
RCV000468280
RCV000588762
RCV002281936
RCV003467052
RCV003322597
RCV003997289
dbSNP Id:
rs587780045
ExAC:
7:6026397 C / T
gnomAD v2:
7-6026397-C-T
gnomAD v3:
7-5986766-C-T
gnomAD v4:
7-5986766-C-T
PubMed:
PMID:27616075
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5986766C>T , CM000669.2:g.5986766C>T | GRCh38 |
| NC_000007.13:g.6026397C>T , CM000669.1:g.6026397C>T | GRCh37 |
| NC_000007.12:g.5992923C>T | NCBI36 |
| NG_008466.1:g.27341G>A , LRG_161:g.27341G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1395G>A | ENSP00000514615.2:n.*1395G>A | |
| ENST00000699840.2:c.1996G>A | ENSP00000514638.2:p.Glu666Lys | |
| ENST00000699930.2:c.1891G>A | ENSP00000514695.2:p.Glu631Lys | |
| ENST00000406569.8:c.1678+321G>A | ENSP00000514464.1:n.1678+321G>A | |
| ENST00000644110.2:c.*1593G>A | ENSP00000496392.2:n.*1593G>A | |
| ENST00000699752.1:c.1843G>A | ENSP00000514561.1:p.Glu615Lys | |
| ENST00000699753.1:c.*1420G>A | ENSP00000514562.1:n.*1420G>A | |
| ENST00000699754.1:c.1801G>A | ENSP00000514563.1:p.Glu601Lys | |
| ENST00000699755.1:c.*1398G>A | ENSP00000514564.1:n.*1398G>A | |
| ENST00000699756.1:c.*1586G>A | ENSP00000514565.1:n.*1586G>A | |
| ENST00000699757.1:c.*1256G>A | ENSP00000514566.1:n.*1256G>A | |
| ENST00000699758.1:c.*1256G>A | ENSP00000514567.1:n.*1256G>A | |
| ENST00000699759.1:n.2853G>A | ||
| ENST00000699760.1:c.1681G>A | ENSP00000514568.1:p.Glu561Lys | |
| ENST00000699761.1:c.1594G>A | ENSP00000514569.1:p.Glu532Lys | |
| ENST00000699762.1:c.1426G>A | ENSP00000514570.1:p.Glu476Lys | |
| ENST00000699763.1:c.*1089G>A | ENSP00000514571.1:n.*1089G>A | |
| ENST00000699764.1:c.*317G>A | ENSP00000514572.1:n.*317G>A | |
| ENST00000699765.1:c.*1095G>A | ENSP00000514573.1:n.*1095G>A | |
| ENST00000699766.1:c.1999G>A | ENSP00000514574.1:p.Glu667Lys | |
| ENST00000699767.1:c.1999G>A | ENSP00000514575.1:p.Glu667Lys | |
| ENST00000699768.1:c.1999G>A | ENSP00000514576.1:p.Glu667Lys | |
| ENST00000699811.1:c.1594G>A | ENSP00000514614.1:p.Glu532Lys | |
| ENST00000699813.1:n.2112G>A | ||
| ENST00000699814.1:c.1622G>A | ||
| ENST00000699815.1:c.*1530G>A | ENSP00000514616.1:n.*1530G>A | |
| ENST00000699816.1:c.*889G>A | ENSP00000514617.1:n.*889G>A | |
| ENST00000699817.1:c.*1593G>A | ENSP00000514618.1:n.*1593G>A | |
| ENST00000699818.1:c.1594G>A | ENSP00000514619.1:p.Glu532Lys | |
| ENST00000699819.1:c.*1156G>A | ENSP00000514620.1:n.*1156G>A | |
| ENST00000699820.1:c.1144+3034G>A | ENSP00000514621.1:n.1144+3034G>A | |
| ENST00000699821.1:c.1594G>A | ENSP00000514622.1:p.Glu532Lys | |
| ENST00000699822.1:c.*1451G>A | ENSP00000514623.1:n.*1451G>A | |
| ENST00000699823.1:c.1594G>A | ENSP00000514624.1:p.Glu532Lys | |
| ENST00000699824.1:c.*1502G>A | ENSP00000514625.1:n.*1502G>A | |
| ENST00000699825.1:c.1438G>A | ENSP00000514626.1:p.Glu480Lys | |
| ENST00000699826.1:c.*1398G>A | ENSP00000514627.1:n.*1398G>A | |
| ENST00000699827.1:c.1831G>A | ENSP00000514628.1:p.Glu611Lys | |
| ENST00000699828.1:c.*1089G>A | ENSP00000514629.1:n.*1089G>A | |
| ENST00000699833.1:n.3771G>A | ||
| ENST00000699837.1:c.1594G>A | ENSP00000514635.1:p.Glu532Lys | |
| ENST00000699838.1:c.*1899G>A | ENSP00000514636.1:n.*1899G>A | |
| ENST00000699839.1:c.2185G>A | ENSP00000514637.1:p.Glu729Lys | |
| ENST00000699916.1:c.*1256G>A | ENSP00000514684.1:n.*1256G>A | |
| ENST00000699917.1:c.*1448G>A | ENSP00000514685.1:n.*1448G>A | |
| ENST00000699918.1:c.*1500G>A | ENSP00000514686.1:n.*1500G>A | |
| ENST00000699919.1:c.*1586G>A | ENSP00000514687.1:n.*1586G>A | |
| ENST00000699920.1:c.*1635G>A | ENSP00000514688.1:n.*1635G>A | |
| ENST00000699928.1:c.989-3775G>A | ENSP00000514693.1:n.989-3775G>A | |
| ENST00000699951.1:c.*1095G>A | ENSP00000514706.1:n.*1095G>A | |
| ENST00000699952.1:c.803+10560G>A | ENSP00000514707.1:n.803+10560G>A | |
| ENST00000265849.12:c.1999G>A MANE Select | ENSP00000265849.7:p.Glu667Lys | |
| ENST00000642292.1:c.1594G>A | ENSP00000495524.1:p.Glu532Lys | |
| ENST00000642456.1:c.1594G>A | ENSP00000493814.1:p.Glu532Lys | |
| ENST00000643595.1:c.*1398G>A | ENSP00000494497.1:n.*1398G>A | |
| ENST00000644110.1:c.1681G>A | ENSP00000496392.1:p.Glu561Lys | |
| ENST00000265849.11:c.1999G>A | ENSP00000265849.7:p.Glu667Lys | |
| ENST00000382321.5:c.804-3775G>A | ENSP00000371758.4:n.804-3775G>A | |
| ENST00000406569.7:n.1678+321G>A | ||
| ENST00000441476.6:c.1681G>A | ENSP00000392843.2:p.Glu561Lys | |
| ENST00000469652.1:n.63-3861G>A | ||
| NM_000535.5:c.1999G>A , LRG_161t1:c.1999G>A | NP_000526.1:p.Glu667Lys | |
| NR_003085.2:n.2081G>A | ||
| XM_006715742.2:c.1993G>A | XP_006715805.1:p.Glu665Lys | |
| XM_006715744.2:c.1066G>A | XP_006715807.1:p.Glu356Lys | |
| XM_011515427.1:c.2044G>A | XP_011513729.1:p.Glu682Lys | |
| XM_011515428.1:c.1888G>A | XP_011513730.1:p.Glu630Lys | |
| XM_011515429.1:c.1681G>A | XP_011513731.1:p.Glu561Lys | |
| XM_011515430.1:c.1681G>A | XP_011513732.1:p.Glu561Lys | |
| NM_000535.6:c.1999G>A | NP_000526.2:p.Glu667Lys | |
| NM_001322003.1:c.1594G>A | NP_001308932.1:p.Glu532Lys | |
| NM_001322004.1:c.1594G>A | NP_001308933.1:p.Glu532Lys | |
| NM_001322005.1:c.1594G>A | NP_001308934.1:p.Glu532Lys | |
| NM_001322006.1:c.1843G>A | NP_001308935.1:p.Glu615Lys | |
| NM_001322007.1:c.1681G>A | NP_001308936.1:p.Glu561Lys | |
| NM_001322008.1:c.1681G>A | NP_001308937.1:p.Glu561Lys | |
| NM_001322009.1:c.1594G>A | NP_001308938.1:p.Glu532Lys | |
| NM_001322010.1:c.1438G>A | NP_001308939.1:p.Glu480Lys | |
| NM_001322011.1:c.1066G>A | NP_001308940.1:p.Glu356Lys | |
| NM_001322012.1:c.1066G>A | NP_001308941.1:p.Glu356Lys | |
| NM_001322013.1:c.1426G>A | NP_001308942.1:p.Glu476Lys | |
| NM_001322014.1:c.1999G>A | NP_001308943.1:p.Glu667Lys | |
| NM_001322015.1:c.1690G>A | NP_001308944.1:p.Glu564Lys | |
| NR_136154.1:n.2086G>A | ||
| XM_006715744.4:c.1066G>A | XP_006715807.1:p.Glu356Lys | |
| XM_017012342.2:c.1066G>A | XP_016867831.1:p.Glu356Lys | |
| XM_024446800.1:c.1438G>A | XP_024302568.1:p.Glu480Lys | |
| NM_000535.7:c.1999G>A MANE Select | NP_000526.2:p.Glu667Lys | |
| NM_001322003.2:c.1594G>A | NP_001308932.1:p.Glu532Lys | |
| NM_001322004.2:c.1594G>A | NP_001308933.1:p.Glu532Lys | |
| NM_001322005.2:c.1594G>A | NP_001308934.1:p.Glu532Lys | |
| NM_001322006.2:c.1843G>A | NP_001308935.1:p.Glu615Lys | |
| NM_001322008.2:c.1681G>A | NP_001308937.1:p.Glu561Lys | |
| NM_001322009.2:c.1594G>A | NP_001308938.1:p.Glu532Lys | |
| NM_001322010.2:c.1438G>A | NP_001308939.1:p.Glu480Lys | |
| NM_001322011.2:c.1066G>A | NP_001308940.1:p.Glu356Lys | |
| NM_001322012.2:c.1066G>A | NP_001308941.1:p.Glu356Lys | |
| NM_001322013.2:c.1426G>A | NP_001308942.1:p.Glu476Lys | |
| NM_001322014.2:c.1999G>A | NP_001308943.1:p.Glu667Lys | |
| NM_001322015.2:c.1690G>A | NP_001308944.1:p.Glu564Lys | |
| NM_001322007.2:c.1681G>A | NP_001308936.1:p.Glu561Lys |