Linked Data
ClinVar Variation Id:
411040
dbSNP Id:
rs1060503124
gnomAD v2:
7-6013032-A-C
gnomAD v3:
7-5973401-A-C
gnomAD v4:
7-5973401-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5973401A>C , CM000669.2:g.5973401A>C | GRCh38 |
| NC_000007.13:g.6013032A>C , CM000669.1:g.6013032A>C | GRCh37 |
| NC_000007.12:g.5979558A>C | NCBI36 |
| NG_008466.1:g.40706T>G , LRG_161:g.40706T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1983T>G | ENSP00000514615.2:n.*1983T>G | |
| ENST00000699840.2:c.2584T>G | ENSP00000514638.2:p.Ter862Gly | |
| ENST00000699930.2:c.2479T>G | ENSP00000514695.2:p.Ter827Gly | |
| ENST00000406569.8:c.1947T>G | ENSP00000514464.1:n.1947T>G | |
| ENST00000644110.2:c.*2181T>G | ENSP00000496392.2:n.*2181T>G | |
| ENST00000699752.1:c.2431T>G | ENSP00000514561.1:p.Ter811Gly | |
| ENST00000699753.1:c.*2008T>G | ENSP00000514562.1:n.*2008T>G | |
| ENST00000699754.1:c.2389T>G | ENSP00000514563.1:p.Ter797Gly | |
| ENST00000699755.1:c.*1986T>G | ENSP00000514564.1:n.*1986T>G | |
| ENST00000699756.1:c.*2174T>G | ENSP00000514565.1:n.*2174T>G | |
| ENST00000699757.1:c.*1844T>G | ENSP00000514566.1:n.*1844T>G | |
| ENST00000699758.1:c.*1844T>G | ENSP00000514567.1:n.*1844T>G | |
| ENST00000699759.1:n.3441T>G | ||
| ENST00000699760.1:c.2269T>G | ENSP00000514568.1:p.Ter757Gly | |
| ENST00000699761.1:c.2182T>G | ENSP00000514569.1:p.Ter728Gly | |
| ENST00000699762.1:c.2014T>G | ENSP00000514570.1:p.Ter672Gly | |
| ENST00000699763.1:c.*1677T>G | ENSP00000514571.1:n.*1677T>G | |
| ENST00000699764.1:c.*905T>G | ENSP00000514572.1:n.*905T>G | |
| ENST00000699765.1:c.*1582T>G | ENSP00000514573.1:n.*1582T>G | |
| ENST00000699766.1:c.2620T>G | ENSP00000514574.1:p.Ter874Gly | |
| ENST00000699767.1:c.*228T>G | ENSP00000514575.1:n.*228T>G | |
| ENST00000699768.1:c.2443T>G | ENSP00000514576.1:p.Ter815Gly | |
| ENST00000699811.1:c.2182T>G | ENSP00000514614.1:p.Ter728Gly | |
| ENST00000699813.1:n.2700T>G | ||
| ENST00000699814.1:c.2210T>G | ||
| ENST00000699815.1:c.*2118T>G | ENSP00000514616.1:n.*2118T>G | |
| ENST00000699816.1:c.*1477T>G | ENSP00000514617.1:n.*1477T>G | |
| ENST00000699817.1:c.*2181T>G | ENSP00000514618.1:n.*2181T>G | |
| ENST00000699818.1:c.2182T>G | ENSP00000514619.1:p.Ter728Gly | |
| ENST00000699819.1:c.*1744T>G | ENSP00000514620.1:n.*1744T>G | |
| ENST00000699820.1:c.*525T>G | ENSP00000514621.1:n.*525T>G | |
| ENST00000699821.1:c.2215T>G | ENSP00000514622.1:p.Ter739Gly | |
| ENST00000699822.1:c.*2039T>G | ENSP00000514623.1:n.*2039T>G | |
| ENST00000699823.1:c.2182T>G | ENSP00000514624.1:p.Ter728Gly | |
| ENST00000699824.1:c.*2090T>G | ENSP00000514625.1:n.*2090T>G | |
| ENST00000699825.1:c.2026T>G | ENSP00000514626.1:p.Ter676Gly | |
| ENST00000699826.1:c.*1986T>G | ENSP00000514627.1:n.*1986T>G | |
| ENST00000699827.1:c.2419T>G | ENSP00000514628.1:p.Ter807Gly | |
| ENST00000699828.1:c.*1677T>G | ENSP00000514629.1:n.*1677T>G | |
| ENST00000699833.1:n.4359T>G | ||
| ENST00000699837.1:c.2182T>G | ENSP00000514635.1:p.Ter728Gly | |
| ENST00000699838.1:c.*2487T>G | ENSP00000514636.1:n.*2487T>G | |
| ENST00000699839.1:c.2773T>G | ENSP00000514637.1:p.Ter925Gly | |
| ENST00000699916.1:c.*1844T>G | ENSP00000514684.1:n.*1844T>G | |
| ENST00000699917.1:c.*2036T>G | ENSP00000514685.1:n.*2036T>G | |
| ENST00000699918.1:c.*2088T>G | ENSP00000514686.1:n.*2088T>G | |
| ENST00000699919.1:c.*2174T>G | ENSP00000514687.1:n.*2174T>G | |
| ENST00000699920.1:c.*2223T>G | ENSP00000514688.1:n.*2223T>G | |
| ENST00000699928.1:c.*525T>G | ENSP00000514693.1:n.*525T>G | |
| ENST00000699951.1:c.*1640T>G | ENSP00000514706.1:n.*1640T>G | |
| ENST00000699952.1:c.*141T>G | ENSP00000514707.1:n.*141T>G | |
| ENST00000265849.12:c.2587T>G MANE Select | ENSP00000265849.7:p.Ter863Gly | |
| ENST00000642292.1:c.2182T>G | ENSP00000495524.1:p.Ter728Gly | |
| ENST00000642456.1:c.2182T>G | ENSP00000493814.1:p.Ter728Gly | |
| ENST00000643595.1:c.*1986T>G | ENSP00000494497.1:n.*1986T>G | |
| ENST00000644110.1:c.2269T>G | ENSP00000496392.1:p.Ter757Gly | |
| ENST00000265849.11:c.2587T>G | ENSP00000265849.7:p.Ter863Gly | |
| ENST00000382321.5:c.1384T>G | ENSP00000371758.4:p.Ter462Gly | |
| ENST00000441476.6:c.2269T>G | ENSP00000392843.2:p.Ter757Gly | |
| NM_000535.5:c.2587T>G , LRG_161t1:c.2587T>G | NP_000526.1:p.Ter863Gly | |
| NR_003085.2:n.2669T>G | ||
| XM_006715742.2:c.2581T>G | XP_006715805.1:p.Ter861Gly | |
| XM_006715744.2:c.1654T>G | XP_006715807.1:p.Ter552Gly | |
| XM_011515427.1:c.2632T>G | XP_011513729.1:p.Ter878Gly | |
| XM_011515428.1:c.2476T>G | XP_011513730.1:p.Ter826Gly | |
| XM_011515429.1:c.2269T>G | XP_011513731.1:p.Ter757Gly | |
| XM_011515430.1:c.2269T>G | XP_011513732.1:p.Ter757Gly | |
| NM_000535.6:c.2587T>G | NP_000526.2:p.Ter863Gly | |
| NM_001322003.1:c.2182T>G | NP_001308932.1:p.Ter728Gly | |
| NM_001322004.1:c.2182T>G | NP_001308933.1:p.Ter728Gly | |
| NM_001322005.1:c.2182T>G | NP_001308934.1:p.Ter728Gly | |
| NM_001322006.1:c.2431T>G | NP_001308935.1:p.Ter811Gly | |
| NM_001322007.1:c.2269T>G | NP_001308936.1:p.Ter757Gly | |
| NM_001322008.1:c.2269T>G | NP_001308937.1:p.Ter757Gly | |
| NM_001322009.1:c.2215T>G | NP_001308938.1:p.Ter739Gly | |
| NM_001322010.1:c.2026T>G | NP_001308939.1:p.Ter676Gly | |
| NM_001322011.1:c.1654T>G | NP_001308940.1:p.Ter552Gly | |
| NM_001322012.1:c.1654T>G | NP_001308941.1:p.Ter552Gly | |
| NM_001322013.1:c.2014T>G | NP_001308942.1:p.Ter672Gly | |
| NM_001322014.1:c.2620T>G | NP_001308943.1:p.Ter874Gly | |
| NM_001322015.1:c.2278T>G | NP_001308944.1:p.Ter760Gly | |
| NR_136154.1:n.2631T>G | ||
| XM_006715744.4:c.1654T>G | XP_006715807.1:p.Ter552Gly | |
| XM_017012342.2:c.1654T>G | XP_016867831.1:p.Ter552Gly | |
| XM_024446800.1:c.2026T>G | XP_024302568.1:p.Ter676Gly | |
| NM_000535.7:c.2587T>G MANE Select | NP_000526.2:p.Ter863Gly | |
| NM_001322003.2:c.2182T>G | NP_001308932.1:p.Ter728Gly | |
| NM_001322004.2:c.2182T>G | NP_001308933.1:p.Ter728Gly | |
| NM_001322005.2:c.2182T>G | NP_001308934.1:p.Ter728Gly | |
| NM_001322006.2:c.2431T>G | NP_001308935.1:p.Ter811Gly | |
| NM_001322008.2:c.2269T>G | NP_001308937.1:p.Ter757Gly | |
| NM_001322009.2:c.2215T>G | NP_001308938.1:p.Ter739Gly | |
| NM_001322010.2:c.2026T>G | NP_001308939.1:p.Ter676Gly | |
| NM_001322011.2:c.1654T>G | NP_001308940.1:p.Ter552Gly | |
| NM_001322012.2:c.1654T>G | NP_001308941.1:p.Ter552Gly | |
| NM_001322013.2:c.2014T>G | NP_001308942.1:p.Ter672Gly | |
| NM_001322014.2:c.2620T>G | NP_001308943.1:p.Ter874Gly | |
| NM_001322015.2:c.2278T>G | NP_001308944.1:p.Ter760Gly | |
| NM_001322007.2:c.2269T>G | NP_001308936.1:p.Ter757Gly |