Linked Data
ClinVar Variation Id:
91334
ClinVar RCV Id:
RCV000076849
RCV000115679
RCV000212868
RCV000524463
RCV001253062
RCV002271400
RCV003398663
dbSNP Id:
rs587779337
gnomAD v2:
7-6018253-C-T
gnomAD v3:
7-5978622-C-T
gnomAD v4:
7-5978622-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5978622C>T , CM000669.2:g.5978622C>T | GRCh38 |
| NC_000007.13:g.6018253C>T , CM000669.1:g.6018253C>T | GRCh37 |
| NC_000007.12:g.5984779C>T | NCBI36 |
| NG_008466.1:g.35485G>A , LRG_161:g.35485G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1645G>A | ENSP00000514615.2:n.*1645G>A | |
| ENST00000699840.2:c.2246G>A | ENSP00000514638.2:p.Gly749Asp | |
| ENST00000699930.2:c.2141G>A | ENSP00000514695.2:p.Gly714Asp | |
| ENST00000406569.8:c.1679-908G>A | ENSP00000514464.1:n.1679-908G>A | |
| ENST00000644110.2:c.*1843G>A | ENSP00000496392.2:n.*1843G>A | |
| ENST00000699752.1:c.2093G>A | ENSP00000514561.1:p.Gly698Asp | |
| ENST00000699753.1:c.*1670G>A | ENSP00000514562.1:n.*1670G>A | |
| ENST00000699754.1:c.2051G>A | ENSP00000514563.1:p.Gly684Asp | |
| ENST00000699755.1:c.*1648G>A | ENSP00000514564.1:n.*1648G>A | |
| ENST00000699756.1:c.*1836G>A | ENSP00000514565.1:n.*1836G>A | |
| ENST00000699757.1:c.*1506G>A | ENSP00000514566.1:n.*1506G>A | |
| ENST00000699758.1:c.*1506G>A | ENSP00000514567.1:n.*1506G>A | |
| ENST00000699759.1:n.3103G>A | ||
| ENST00000699760.1:c.1931G>A | ENSP00000514568.1:p.Gly644Asp | |
| ENST00000699761.1:c.1844G>A | ENSP00000514569.1:p.Gly615Asp | |
| ENST00000699762.1:c.1676G>A | ENSP00000514570.1:p.Gly559Asp | |
| ENST00000699763.1:c.*1339G>A | ENSP00000514571.1:n.*1339G>A | |
| ENST00000699764.1:c.*567G>A | ENSP00000514572.1:n.*567G>A | |
| ENST00000699765.1:c.*1271-865G>A | ENSP00000514573.1:n.*1271-865G>A | |
| ENST00000699766.1:c.2249G>A | ENSP00000514574.1:p.Gly750Asp | |
| ENST00000699767.1:c.2249G>A | ENSP00000514575.1:p.Gly750Asp | |
| ENST00000699768.1:c.2175-908G>A | ENSP00000514576.1:n.2175-908G>A | |
| ENST00000699811.1:c.1844G>A | ENSP00000514614.1:p.Gly615Asp | |
| ENST00000699813.1:n.2362G>A | ||
| ENST00000699814.1:c.1872G>A | ||
| ENST00000699815.1:c.*1780G>A | ENSP00000514616.1:n.*1780G>A | |
| ENST00000699816.1:c.*1139G>A | ENSP00000514617.1:n.*1139G>A | |
| ENST00000699817.1:c.*1843G>A | ENSP00000514618.1:n.*1843G>A | |
| ENST00000699818.1:c.1844G>A | ENSP00000514619.1:p.Gly615Asp | |
| ENST00000699819.1:c.*1406G>A | ENSP00000514620.1:n.*1406G>A | |
| ENST00000699820.1:c.*187G>A | ENSP00000514621.1:n.*187G>A | |
| ENST00000699821.1:c.1844G>A | ENSP00000514622.1:p.Gly615Asp | |
| ENST00000699822.1:c.*1701G>A | ENSP00000514623.1:n.*1701G>A | |
| ENST00000699823.1:c.1844G>A | ENSP00000514624.1:p.Gly615Asp | |
| ENST00000699824.1:c.*1752G>A | ENSP00000514625.1:n.*1752G>A | |
| ENST00000699825.1:c.1688G>A | ENSP00000514626.1:p.Gly563Asp | |
| ENST00000699826.1:c.*1648G>A | ENSP00000514627.1:n.*1648G>A | |
| ENST00000699827.1:c.2081G>A | ENSP00000514628.1:p.Gly694Asp | |
| ENST00000699828.1:c.*1339G>A | ENSP00000514629.1:n.*1339G>A | |
| ENST00000699833.1:n.4021G>A | ||
| ENST00000699837.1:c.1844G>A | ENSP00000514635.1:p.Gly615Asp | |
| ENST00000699838.1:c.*2149G>A | ENSP00000514636.1:n.*2149G>A | |
| ENST00000699839.1:c.2435G>A | ENSP00000514637.1:p.Gly812Asp | |
| ENST00000699916.1:c.*1506G>A | ENSP00000514684.1:n.*1506G>A | |
| ENST00000699917.1:c.*1698G>A | ENSP00000514685.1:n.*1698G>A | |
| ENST00000699918.1:c.*1750G>A | ENSP00000514686.1:n.*1750G>A | |
| ENST00000699919.1:c.*1836G>A | ENSP00000514687.1:n.*1836G>A | |
| ENST00000699920.1:c.*1885G>A | ENSP00000514688.1:n.*1885G>A | |
| ENST00000699928.1:c.*187G>A | ENSP00000514693.1:n.*187G>A | |
| ENST00000699951.1:c.*1345G>A | ENSP00000514706.1:n.*1345G>A | |
| ENST00000699952.1:c.804-5080G>A | ENSP00000514707.1:n.804-5080G>A | |
| ENST00000265849.12:c.2249G>A MANE Select | ENSP00000265849.7:p.Gly750Asp | |
| ENST00000642292.1:c.1844G>A | ENSP00000495524.1:p.Gly615Asp | |
| ENST00000642456.1:c.1844G>A | ENSP00000493814.1:p.Gly615Asp | |
| ENST00000643595.1:c.*1648G>A | ENSP00000494497.1:n.*1648G>A | |
| ENST00000644110.1:c.1931G>A | ENSP00000496392.1:p.Gly644Asp | |
| ENST00000265849.11:c.2249G>A | ENSP00000265849.7:p.Gly750Asp | |
| ENST00000382321.5:c.1046G>A | ENSP00000371758.4:p.Gly349Asp | |
| ENST00000406569.7:n.1679-908G>A | ||
| ENST00000441476.6:c.1931G>A | ENSP00000392843.2:p.Gly644Asp | |
| NM_000535.5:c.2249G>A , LRG_161t1:c.2249G>A | NP_000526.1:p.Gly750Asp | |
| NR_003085.2:n.2331G>A | ||
| XM_006715742.2:c.2243G>A | XP_006715805.1:p.Gly748Asp | |
| XM_006715744.2:c.1316G>A | XP_006715807.1:p.Gly439Asp | |
| XM_011515427.1:c.2294G>A | XP_011513729.1:p.Gly765Asp | |
| XM_011515428.1:c.2138G>A | XP_011513730.1:p.Gly713Asp | |
| XM_011515429.1:c.1931G>A | XP_011513731.1:p.Gly644Asp | |
| XM_011515430.1:c.1931G>A | XP_011513732.1:p.Gly644Asp | |
| NM_000535.6:c.2249G>A | NP_000526.2:p.Gly750Asp | |
| NM_001322003.1:c.1844G>A | NP_001308932.1:p.Gly615Asp | |
| NM_001322004.1:c.1844G>A | NP_001308933.1:p.Gly615Asp | |
| NM_001322005.1:c.1844G>A | NP_001308934.1:p.Gly615Asp | |
| NM_001322006.1:c.2093G>A | NP_001308935.1:p.Gly698Asp | |
| NM_001322007.1:c.1931G>A | NP_001308936.1:p.Gly644Asp | |
| NM_001322008.1:c.1931G>A | NP_001308937.1:p.Gly644Asp | |
| NM_001322009.1:c.1844G>A | NP_001308938.1:p.Gly615Asp | |
| NM_001322010.1:c.1688G>A | NP_001308939.1:p.Gly563Asp | |
| NM_001322011.1:c.1316G>A | NP_001308940.1:p.Gly439Asp | |
| NM_001322012.1:c.1316G>A | NP_001308941.1:p.Gly439Asp | |
| NM_001322013.1:c.1676G>A | NP_001308942.1:p.Gly559Asp | |
| NM_001322014.1:c.2249G>A | NP_001308943.1:p.Gly750Asp | |
| NM_001322015.1:c.1940G>A | NP_001308944.1:p.Gly647Asp | |
| NR_136154.1:n.2336G>A | ||
| XM_006715744.4:c.1316G>A | XP_006715807.1:p.Gly439Asp | |
| XM_017012342.2:c.1316G>A | XP_016867831.1:p.Gly439Asp | |
| XM_024446800.1:c.1688G>A | XP_024302568.1:p.Gly563Asp | |
| NM_000535.7:c.2249G>A MANE Select | NP_000526.2:p.Gly750Asp | |
| NM_001322003.2:c.1844G>A | NP_001308932.1:p.Gly615Asp | |
| NM_001322004.2:c.1844G>A | NP_001308933.1:p.Gly615Asp | |
| NM_001322005.2:c.1844G>A | NP_001308934.1:p.Gly615Asp | |
| NM_001322006.2:c.2093G>A | NP_001308935.1:p.Gly698Asp | |
| NM_001322008.2:c.1931G>A | NP_001308937.1:p.Gly644Asp | |
| NM_001322009.2:c.1844G>A | NP_001308938.1:p.Gly615Asp | |
| NM_001322010.2:c.1688G>A | NP_001308939.1:p.Gly563Asp | |
| NM_001322011.2:c.1316G>A | NP_001308940.1:p.Gly439Asp | |
| NM_001322012.2:c.1316G>A | NP_001308941.1:p.Gly439Asp | |
| NM_001322013.2:c.1676G>A | NP_001308942.1:p.Gly559Asp | |
| NM_001322014.2:c.2249G>A | NP_001308943.1:p.Gly750Asp | |
| NM_001322015.2:c.1940G>A | NP_001308944.1:p.Gly647Asp | |
| NM_001322007.2:c.1931G>A | NP_001308936.1:p.Gly644Asp |