Linked Data
ClinVar Variation Id:
91343
ClinVar RCV Id:
RCV000076859
RCV000130249
RCV000485694
RCV000525929
RCV000764719
RCV001193971
RCV003452993
dbSNP Id:
rs587779338
ExAC:
7:6017220 G / A
gnomAD v2:
7-6017220-G-A
gnomAD v3:
7-5977589-G-A
gnomAD v4:
7-5977589-G-A
COSMIC:
COSM327136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5977589G>A , CM000669.2:g.5977589G>A | GRCh38 |
| NC_000007.13:g.6017220G>A , CM000669.1:g.6017220G>A | GRCh37 |
| NC_000007.12:g.5983746G>A | NCBI36 |
| NG_008466.1:g.36518C>T , LRG_161:g.36518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1840C>T | ENSP00000514615.2:n.*1840C>T | |
| ENST00000699840.2:c.2441C>T | ENSP00000514638.2:p.Ser814Leu | |
| ENST00000699930.2:c.2336C>T | ENSP00000514695.2:p.Ser779Leu | |
| ENST00000406569.8:c.1804C>T | ENSP00000514464.1:n.1804C>T | |
| ENST00000644110.2:c.*2038C>T | ENSP00000496392.2:n.*2038C>T | |
| ENST00000699752.1:c.2288C>T | ENSP00000514561.1:p.Ser763Leu | |
| ENST00000699753.1:c.*1865C>T | ENSP00000514562.1:n.*1865C>T | |
| ENST00000699754.1:c.2246C>T | ENSP00000514563.1:p.Ser749Leu | |
| ENST00000699755.1:c.*1843C>T | ENSP00000514564.1:n.*1843C>T | |
| ENST00000699756.1:c.*2031C>T | ENSP00000514565.1:n.*2031C>T | |
| ENST00000699757.1:c.*1701C>T | ENSP00000514566.1:n.*1701C>T | |
| ENST00000699758.1:c.*1701C>T | ENSP00000514567.1:n.*1701C>T | |
| ENST00000699759.1:n.3298C>T | ||
| ENST00000699760.1:c.2126C>T | ENSP00000514568.1:p.Ser709Leu | |
| ENST00000699761.1:c.2039C>T | ENSP00000514569.1:p.Ser680Leu | |
| ENST00000699762.1:c.1871C>T | ENSP00000514570.1:p.Ser624Leu | |
| ENST00000699763.1:c.*1534C>T | ENSP00000514571.1:n.*1534C>T | |
| ENST00000699764.1:c.*762C>T | ENSP00000514572.1:n.*762C>T | |
| ENST00000699765.1:c.*1439C>T | ENSP00000514573.1:n.*1439C>T | |
| ENST00000699766.1:c.2477C>T | ENSP00000514574.1:p.Ser826Leu | |
| ENST00000699767.1:c.*85C>T | ENSP00000514575.1:n.*85C>T | |
| ENST00000699768.1:c.2300C>T | ENSP00000514576.1:p.Ser767Leu | |
| ENST00000699811.1:c.2039C>T | ENSP00000514614.1:p.Ser680Leu | |
| ENST00000699813.1:n.2557C>T | ||
| ENST00000699814.1:c.2067C>T | ||
| ENST00000699815.1:c.*1975C>T | ENSP00000514616.1:n.*1975C>T | |
| ENST00000699816.1:c.*1334C>T | ENSP00000514617.1:n.*1334C>T | |
| ENST00000699817.1:c.*2038C>T | ENSP00000514618.1:n.*2038C>T | |
| ENST00000699818.1:c.2039C>T | ENSP00000514619.1:p.Ser680Leu | |
| ENST00000699819.1:c.*1601C>T | ENSP00000514620.1:n.*1601C>T | |
| ENST00000699820.1:c.*382C>T | ENSP00000514621.1:n.*382C>T | |
| ENST00000699821.1:c.2072C>T | ENSP00000514622.1:p.Ser691Leu | |
| ENST00000699822.1:c.*1896C>T | ENSP00000514623.1:n.*1896C>T | |
| ENST00000699823.1:c.2039C>T | ENSP00000514624.1:p.Ser680Leu | |
| ENST00000699824.1:c.*1947C>T | ENSP00000514625.1:n.*1947C>T | |
| ENST00000699825.1:c.1883C>T | ENSP00000514626.1:p.Ser628Leu | |
| ENST00000699826.1:c.*1843C>T | ENSP00000514627.1:n.*1843C>T | |
| ENST00000699827.1:c.2276C>T | ENSP00000514628.1:p.Ser759Leu | |
| ENST00000699828.1:c.*1534C>T | ENSP00000514629.1:n.*1534C>T | |
| ENST00000699833.1:n.4216C>T | ||
| ENST00000699837.1:c.2039C>T | ENSP00000514635.1:p.Ser680Leu | |
| ENST00000699838.1:c.*2344C>T | ENSP00000514636.1:n.*2344C>T | |
| ENST00000699839.1:c.2630C>T | ENSP00000514637.1:p.Ser877Leu | |
| ENST00000699916.1:c.*1701C>T | ENSP00000514684.1:n.*1701C>T | |
| ENST00000699917.1:c.*1893C>T | ENSP00000514685.1:n.*1893C>T | |
| ENST00000699918.1:c.*1945C>T | ENSP00000514686.1:n.*1945C>T | |
| ENST00000699919.1:c.*2031C>T | ENSP00000514687.1:n.*2031C>T | |
| ENST00000699920.1:c.*2080C>T | ENSP00000514688.1:n.*2080C>T | |
| ENST00000699928.1:c.*382C>T | ENSP00000514693.1:n.*382C>T | |
| ENST00000699951.1:c.*1497C>T | ENSP00000514706.1:n.*1497C>T | |
| ENST00000699952.1:c.804-4047C>T | ENSP00000514707.1:n.804-4047C>T | |
| ENST00000265849.12:c.2444C>T MANE Select | ENSP00000265849.7:p.Ser815Leu | |
| ENST00000642292.1:c.2039C>T | ENSP00000495524.1:p.Ser680Leu | |
| ENST00000642456.1:c.2039C>T | ENSP00000493814.1:p.Ser680Leu | |
| ENST00000643595.1:c.*1843C>T | ENSP00000494497.1:n.*1843C>T | |
| ENST00000644110.1:c.2126C>T | ENSP00000496392.1:p.Ser709Leu | |
| ENST00000265849.11:c.2444C>T | ENSP00000265849.7:p.Ser815Leu | |
| ENST00000382321.5:c.1241C>T | ENSP00000371758.4:p.Ser414Leu | |
| ENST00000441476.6:c.2126C>T | ENSP00000392843.2:p.Ser709Leu | |
| NM_000535.5:c.2444C>T , LRG_161t1:c.2444C>T | NP_000526.1:p.Ser815Leu | |
| NR_003085.2:n.2526C>T | ||
| XM_006715742.2:c.2438C>T | XP_006715805.1:p.Ser813Leu | |
| XM_006715744.2:c.1511C>T | XP_006715807.1:p.Ser504Leu | |
| XM_011515427.1:c.2489C>T | XP_011513729.1:p.Ser830Leu | |
| XM_011515428.1:c.2333C>T | XP_011513730.1:p.Ser778Leu | |
| XM_011515429.1:c.2126C>T | XP_011513731.1:p.Ser709Leu | |
| XM_011515430.1:c.2126C>T | XP_011513732.1:p.Ser709Leu | |
| NM_000535.6:c.2444C>T | NP_000526.2:p.Ser815Leu | |
| NM_001322003.1:c.2039C>T | NP_001308932.1:p.Ser680Leu | |
| NM_001322004.1:c.2039C>T | NP_001308933.1:p.Ser680Leu | |
| NM_001322005.1:c.2039C>T | NP_001308934.1:p.Ser680Leu | |
| NM_001322006.1:c.2288C>T | NP_001308935.1:p.Ser763Leu | |
| NM_001322007.1:c.2126C>T | NP_001308936.1:p.Ser709Leu | |
| NM_001322008.1:c.2126C>T | NP_001308937.1:p.Ser709Leu | |
| NM_001322009.1:c.2072C>T | NP_001308938.1:p.Ser691Leu | |
| NM_001322010.1:c.1883C>T | NP_001308939.1:p.Ser628Leu | |
| NM_001322011.1:c.1511C>T | NP_001308940.1:p.Ser504Leu | |
| NM_001322012.1:c.1511C>T | NP_001308941.1:p.Ser504Leu | |
| NM_001322013.1:c.1871C>T | NP_001308942.1:p.Ser624Leu | |
| NM_001322014.1:c.2477C>T | NP_001308943.1:p.Ser826Leu | |
| NM_001322015.1:c.2135C>T | NP_001308944.1:p.Ser712Leu | |
| NR_136154.1:n.2488C>T | ||
| XM_006715744.4:c.1511C>T | XP_006715807.1:p.Ser504Leu | |
| XM_017012342.2:c.1511C>T | XP_016867831.1:p.Ser504Leu | |
| XM_024446800.1:c.1883C>T | XP_024302568.1:p.Ser628Leu | |
| NM_000535.7:c.2444C>T MANE Select | NP_000526.2:p.Ser815Leu | |
| NM_001322003.2:c.2039C>T | NP_001308932.1:p.Ser680Leu | |
| NM_001322004.2:c.2039C>T | NP_001308933.1:p.Ser680Leu | |
| NM_001322005.2:c.2039C>T | NP_001308934.1:p.Ser680Leu | |
| NM_001322006.2:c.2288C>T | NP_001308935.1:p.Ser763Leu | |
| NM_001322008.2:c.2126C>T | NP_001308937.1:p.Ser709Leu | |
| NM_001322009.2:c.2072C>T | NP_001308938.1:p.Ser691Leu | |
| NM_001322010.2:c.1883C>T | NP_001308939.1:p.Ser628Leu | |
| NM_001322011.2:c.1511C>T | NP_001308940.1:p.Ser504Leu | |
| NM_001322012.2:c.1511C>T | NP_001308941.1:p.Ser504Leu | |
| NM_001322013.2:c.1871C>T | NP_001308942.1:p.Ser624Leu | |
| NM_001322014.2:c.2477C>T | NP_001308943.1:p.Ser826Leu | |
| NM_001322015.2:c.2135C>T | NP_001308944.1:p.Ser712Leu | |
| NM_001322007.2:c.2126C>T | NP_001308936.1:p.Ser709Leu |