Linked Data
ClinVar Variation Id:
3231972
ClinVar RCV Id:
RCV004518687
dbSNP Id:
rs1338014748
gnomAD v3:
7-5989835-A-T
gnomAD v4:
7-5989835-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5989835A>T , CM000669.2:g.5989835A>T | GRCh38 |
| NC_000007.13:g.6029466A>T , CM000669.1:g.6029466A>T | GRCh37 |
| NC_000007.12:g.5995992A>T | NCBI36 |
| NG_008466.1:g.24272T>A , LRG_161:g.24272T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*505T>A | ENSP00000514615.2:n.*505T>A | |
| ENST00000699840.2:c.1106T>A | ENSP00000514638.2:p.Leu369Gln | |
| ENST00000699930.2:c.1001T>A | ENSP00000514695.2:p.Leu334Gln | |
| ENST00000406569.8:c.1109T>A | ENSP00000514464.1:p.Leu370Gln | |
| ENST00000644110.2:c.*703T>A | ENSP00000496392.2:n.*703T>A | |
| ENST00000699752.1:c.988+2138T>A | ENSP00000514561.1:n.988+2138T>A | |
| ENST00000699753.1:c.*530T>A | ENSP00000514562.1:n.*530T>A | |
| ENST00000699754.1:c.911T>A | ENSP00000514563.1:p.Leu304Gln | |
| ENST00000699755.1:c.*508T>A | ENSP00000514564.1:n.*508T>A | |
| ENST00000699756.1:c.*696T>A | ENSP00000514565.1:n.*696T>A | |
| ENST00000699757.1:c.*366T>A | ENSP00000514566.1:n.*366T>A | |
| ENST00000699758.1:c.*366T>A | ENSP00000514567.1:n.*366T>A | |
| ENST00000699759.1:n.1963T>A | ||
| ENST00000699760.1:c.791T>A | ENSP00000514568.1:p.Leu264Gln | |
| ENST00000699761.1:c.704T>A | ENSP00000514569.1:p.Leu235Gln | |
| ENST00000699762.1:c.536T>A | ENSP00000514570.1:p.Leu179Gln | |
| ENST00000699763.1:c.*199T>A | ENSP00000514571.1:n.*199T>A | |
| ENST00000699764.1:c.1109T>A | ENSP00000514572.1:p.Leu370Gln | |
| ENST00000699765.1:c.*205T>A | ENSP00000514573.1:n.*205T>A | |
| ENST00000699766.1:c.1109T>A | ENSP00000514574.1:p.Leu370Gln | |
| ENST00000699767.1:c.1109T>A | ENSP00000514575.1:p.Leu370Gln | |
| ENST00000699768.1:c.1109T>A | ENSP00000514576.1:p.Leu370Gln | |
| ENST00000699811.1:c.704T>A | ENSP00000514614.1:p.Leu235Gln | |
| ENST00000699813.1:n.1222T>A | ||
| ENST00000699814.1:c.732T>A | ||
| ENST00000699815.1:c.*601T>A | ENSP00000514616.1:n.*601T>A | |
| ENST00000699816.1:c.704T>A | ENSP00000514617.1:p.Leu235Gln | |
| ENST00000699817.1:c.*703T>A | ENSP00000514618.1:n.*703T>A | |
| ENST00000699818.1:c.704T>A | ENSP00000514619.1:p.Leu235Gln | |
| ENST00000699819.1:c.*266T>A | ENSP00000514620.1:n.*266T>A | |
| ENST00000699820.1:c.1109T>A | ENSP00000514621.1:p.Leu370Gln | |
| ENST00000699821.1:c.704T>A | ENSP00000514622.1:p.Leu235Gln | |
| ENST00000699822.1:c.*561T>A | ENSP00000514623.1:n.*561T>A | |
| ENST00000699823.1:c.704T>A | ENSP00000514624.1:p.Leu235Gln | |
| ENST00000699824.1:c.*612T>A | ENSP00000514625.1:n.*612T>A | |
| ENST00000699825.1:c.583+2138T>A | ENSP00000514626.1:n.583+2138T>A | |
| ENST00000699826.1:c.*508T>A | ENSP00000514627.1:n.*508T>A | |
| ENST00000699827.1:c.941T>A | ENSP00000514628.1:p.Leu314Gln | |
| ENST00000699828.1:c.*199T>A | ENSP00000514629.1:n.*199T>A | |
| ENST00000699829.1:c.*610T>A | ENSP00000514630.1:n.*610T>A | |
| ENST00000699830.1:c.*508T>A | ENSP00000514631.1:n.*508T>A | |
| ENST00000699833.1:n.2881T>A | ||
| ENST00000699837.1:c.704T>A | ENSP00000514635.1:p.Leu235Gln | |
| ENST00000699838.1:c.*1009T>A | ENSP00000514636.1:n.*1009T>A | |
| ENST00000699839.1:c.1295T>A | ENSP00000514637.1:p.Leu432Gln | |
| ENST00000699840.1:c.1106T>A | ENSP00000514638.1:p.Leu369Gln | |
| ENST00000699916.1:c.*366T>A | ENSP00000514684.1:n.*366T>A | |
| ENST00000699917.1:c.*558T>A | ENSP00000514685.1:n.*558T>A | |
| ENST00000699918.1:c.*610T>A | ENSP00000514686.1:n.*610T>A | |
| ENST00000699919.1:c.*696T>A | ENSP00000514687.1:n.*696T>A | |
| ENST00000699920.1:c.*745T>A | ENSP00000514688.1:n.*745T>A | |
| ENST00000699928.1:c.988+2138T>A | ENSP00000514693.1:n.988+2138T>A | |
| ENST00000699929.1:c.*410T>A | ENSP00000514694.1:n.*410T>A | |
| ENST00000699930.1:c.1001T>A | ENSP00000514695.1:p.Leu334Gln | |
| ENST00000699931.1:n.2537T>A | ||
| ENST00000699932.1:c.*327T>A | ENSP00000514696.1:n.*327T>A | |
| ENST00000699933.1:n.1089T>A | ||
| ENST00000699951.1:c.*205T>A | ENSP00000514706.1:n.*205T>A | |
| ENST00000699952.1:c.803+7491T>A | ENSP00000514707.1:n.803+7491T>A | |
| ENST00000699953.1:c.*216T>A | ENSP00000514708.1:n.*216T>A | |
| ENST00000699954.1:c.*410T>A | ENSP00000514709.1:n.*410T>A | |
| ENST00000265849.12:c.1109T>A MANE Select | ENSP00000265849.7:p.Leu370Gln | |
| ENST00000642292.1:c.704T>A | ENSP00000495524.1:p.Leu235Gln | |
| ENST00000642456.1:c.704T>A | ENSP00000493814.1:p.Leu235Gln | |
| ENST00000643595.1:c.*508T>A | ENSP00000494497.1:n.*508T>A | |
| ENST00000644110.1:c.791T>A | ENSP00000496392.1:p.Leu264Gln | |
| ENST00000265849.11:c.1109T>A | ENSP00000265849.7:p.Leu370Gln | |
| ENST00000382321.5:c.804-6844T>A | ENSP00000371758.4:n.804-6844T>A | |
| ENST00000406569.7:n.1109T>A | ||
| ENST00000441476.6:c.791T>A | ENSP00000392843.2:p.Leu264Gln | |
| ENST00000469652.1:n.63-6930T>A | ||
| NM_000535.5:c.1109T>A , LRG_161t1:c.1109T>A | NP_000526.1:p.Leu370Gln | |
| NR_003085.2:n.1191T>A | ||
| XM_006715742.2:c.1103T>A | XP_006715805.1:p.Leu368Gln | |
| XM_006715744.2:c.176T>A | XP_006715807.1:p.Leu59Gln | |
| XM_011515427.1:c.1154T>A | XP_011513729.1:p.Leu385Gln | |
| XM_011515428.1:c.1033+2138T>A | XP_011513730.1:n.1033+2138T>A | |
| XM_011515429.1:c.791T>A | XP_011513731.1:p.Leu264Gln | |
| XM_011515430.1:c.791T>A | XP_011513732.1:p.Leu264Gln | |
| NM_000535.6:c.1109T>A | NP_000526.2:p.Leu370Gln | |
| NM_001322003.1:c.704T>A | NP_001308932.1:p.Leu235Gln | |
| NM_001322004.1:c.704T>A | NP_001308933.1:p.Leu235Gln | |
| NM_001322005.1:c.704T>A | NP_001308934.1:p.Leu235Gln | |
| NM_001322006.1:c.988+2138T>A | NP_001308935.1:n.988+2138T>A | |
| NM_001322007.1:c.791T>A | NP_001308936.1:p.Leu264Gln | |
| NM_001322008.1:c.791T>A | NP_001308937.1:p.Leu264Gln | |
| NM_001322009.1:c.704T>A | NP_001308938.1:p.Leu235Gln | |
| NM_001322010.1:c.583+2138T>A | NP_001308939.1:n.583+2138T>A | |
| NM_001322011.1:c.176T>A | NP_001308940.1:p.Leu59Gln | |
| NM_001322012.1:c.176T>A | NP_001308941.1:p.Leu59Gln | |
| NM_001322013.1:c.536T>A | NP_001308942.1:p.Leu179Gln | |
| NM_001322014.1:c.1109T>A | NP_001308943.1:p.Leu370Gln | |
| NM_001322015.1:c.800T>A | NP_001308944.1:p.Leu267Gln | |
| NR_136154.1:n.1196T>A | ||
| XM_006715744.4:c.176T>A | XP_006715807.1:p.Leu59Gln | |
| XM_017012342.2:c.176T>A | XP_016867831.1:p.Leu59Gln | |
| XM_024446800.1:c.583+2138T>A | XP_024302568.1:n.583+2138T>A | |
| NM_000535.7:c.1109T>A MANE Select | NP_000526.2:p.Leu370Gln | |
| NM_001322003.2:c.704T>A | NP_001308932.1:p.Leu235Gln | |
| NM_001322004.2:c.704T>A | NP_001308933.1:p.Leu235Gln | |
| NM_001322005.2:c.704T>A | NP_001308934.1:p.Leu235Gln | |
| NM_001322006.2:c.988+2138T>A | NP_001308935.1:n.988+2138T>A | |
| NM_001322008.2:c.791T>A | NP_001308937.1:p.Leu264Gln | |
| NM_001322009.2:c.704T>A | NP_001308938.1:p.Leu235Gln | |
| NM_001322010.2:c.583+2138T>A | NP_001308939.1:n.583+2138T>A | |
| NM_001322011.2:c.176T>A | NP_001308940.1:p.Leu59Gln | |
| NM_001322012.2:c.176T>A | NP_001308941.1:p.Leu59Gln | |
| NM_001322013.2:c.536T>A | NP_001308942.1:p.Leu179Gln | |
| NM_001322014.2:c.1109T>A | NP_001308943.1:p.Leu370Gln | |
| NM_001322015.2:c.800T>A | NP_001308944.1:p.Leu267Gln | |
| NM_001322007.2:c.791T>A | NP_001308936.1:p.Leu264Gln |