Linked Data
ClinVar Variation Id:
1083953
dbSNP Id:
rs1554292691
gnomAD v4:
7-5973402-G-A
MyVariant Identifiers:
chr7:g.6013033G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5973402G>A , CM000669.2:g.5973402G>A | GRCh38 |
| NC_000007.13:g.6013033G>A , CM000669.1:g.6013033G>A | GRCh37 |
| NC_000007.12:g.5979559G>A | NCBI36 |
| NG_008466.1:g.40705C>T , LRG_161:g.40705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1982C>T | ENSP00000514615.2:n.*1982C>T | |
| ENST00000699840.2:c.2583C>T | ENSP00000514638.2:p.Asn861= | |
| ENST00000699930.2:c.2478C>T | ENSP00000514695.2:p.Asn826= | |
| ENST00000406569.8:c.1946C>T | ENSP00000514464.1:n.1946C>T | |
| ENST00000644110.2:c.*2180C>T | ENSP00000496392.2:n.*2180C>T | |
| ENST00000699752.1:c.2430C>T | ENSP00000514561.1:p.Asn810= | |
| ENST00000699753.1:c.*2007C>T | ENSP00000514562.1:n.*2007C>T | |
| ENST00000699754.1:c.2388C>T | ENSP00000514563.1:p.Asn796= | |
| ENST00000699755.1:c.*1985C>T | ENSP00000514564.1:n.*1985C>T | |
| ENST00000699756.1:c.*2173C>T | ENSP00000514565.1:n.*2173C>T | |
| ENST00000699757.1:c.*1843C>T | ENSP00000514566.1:n.*1843C>T | |
| ENST00000699758.1:c.*1843C>T | ENSP00000514567.1:n.*1843C>T | |
| ENST00000699759.1:n.3440C>T | ||
| ENST00000699760.1:c.2268C>T | ENSP00000514568.1:p.Asn756= | |
| ENST00000699761.1:c.2181C>T | ENSP00000514569.1:p.Asn727= | |
| ENST00000699762.1:c.2013C>T | ENSP00000514570.1:p.Asn671= | |
| ENST00000699763.1:c.*1676C>T | ENSP00000514571.1:n.*1676C>T | |
| ENST00000699764.1:c.*904C>T | ENSP00000514572.1:n.*904C>T | |
| ENST00000699765.1:c.*1581C>T | ENSP00000514573.1:n.*1581C>T | |
| ENST00000699766.1:c.2619C>T | ENSP00000514574.1:p.Asn873= | |
| ENST00000699767.1:c.*227C>T | ENSP00000514575.1:n.*227C>T | |
| ENST00000699768.1:c.2442C>T | ENSP00000514576.1:p.Asn814= | |
| ENST00000699811.1:c.2181C>T | ENSP00000514614.1:p.Asn727= | |
| ENST00000699813.1:n.2699C>T | ||
| ENST00000699814.1:c.2209C>T | ||
| ENST00000699815.1:c.*2117C>T | ENSP00000514616.1:n.*2117C>T | |
| ENST00000699816.1:c.*1476C>T | ENSP00000514617.1:n.*1476C>T | |
| ENST00000699817.1:c.*2180C>T | ENSP00000514618.1:n.*2180C>T | |
| ENST00000699818.1:c.2181C>T | ENSP00000514619.1:p.Asn727= | |
| ENST00000699819.1:c.*1743C>T | ENSP00000514620.1:n.*1743C>T | |
| ENST00000699820.1:c.*524C>T | ENSP00000514621.1:n.*524C>T | |
| ENST00000699821.1:c.2214C>T | ENSP00000514622.1:p.Asn738= | |
| ENST00000699822.1:c.*2038C>T | ENSP00000514623.1:n.*2038C>T | |
| ENST00000699823.1:c.2181C>T | ENSP00000514624.1:p.Asn727= | |
| ENST00000699824.1:c.*2089C>T | ENSP00000514625.1:n.*2089C>T | |
| ENST00000699825.1:c.2025C>T | ENSP00000514626.1:p.Asn675= | |
| ENST00000699826.1:c.*1985C>T | ENSP00000514627.1:n.*1985C>T | |
| ENST00000699827.1:c.2418C>T | ENSP00000514628.1:p.Asn806= | |
| ENST00000699828.1:c.*1676C>T | ENSP00000514629.1:n.*1676C>T | |
| ENST00000699833.1:n.4358C>T | ||
| ENST00000699837.1:c.2181C>T | ENSP00000514635.1:p.Asn727= | |
| ENST00000699838.1:c.*2486C>T | ENSP00000514636.1:n.*2486C>T | |
| ENST00000699839.1:c.2772C>T | ENSP00000514637.1:p.Asn924= | |
| ENST00000699916.1:c.*1843C>T | ENSP00000514684.1:n.*1843C>T | |
| ENST00000699917.1:c.*2035C>T | ENSP00000514685.1:n.*2035C>T | |
| ENST00000699918.1:c.*2087C>T | ENSP00000514686.1:n.*2087C>T | |
| ENST00000699919.1:c.*2173C>T | ENSP00000514687.1:n.*2173C>T | |
| ENST00000699920.1:c.*2222C>T | ENSP00000514688.1:n.*2222C>T | |
| ENST00000699928.1:c.*524C>T | ENSP00000514693.1:n.*524C>T | |
| ENST00000699951.1:c.*1639C>T | ENSP00000514706.1:n.*1639C>T | |
| ENST00000699952.1:c.*140C>T | ENSP00000514707.1:n.*140C>T | |
| ENST00000265849.12:c.2586C>T MANE Select | ENSP00000265849.7:p.Asn862= | |
| ENST00000642292.1:c.2181C>T | ENSP00000495524.1:p.Asn727= | |
| ENST00000642456.1:c.2181C>T | ENSP00000493814.1:p.Asn727= | |
| ENST00000643595.1:c.*1985C>T | ENSP00000494497.1:n.*1985C>T | |
| ENST00000644110.1:c.2268C>T | ENSP00000496392.1:p.Asn756= | |
| ENST00000265849.11:c.2586C>T | ENSP00000265849.7:p.Asn862= | |
| ENST00000382321.5:c.1383C>T | ENSP00000371758.4:p.Asn461= | |
| ENST00000441476.6:c.2268C>T | ENSP00000392843.2:p.Asn756= | |
| NM_000535.5:c.2586C>T , LRG_161t1:c.2586C>T | NP_000526.1:p.Asn862= | |
| NR_003085.2:n.2668C>T | ||
| XM_006715742.2:c.2580C>T | XP_006715805.1:p.Asn860= | |
| XM_006715744.2:c.1653C>T | XP_006715807.1:p.Asn551= | |
| XM_011515427.1:c.2631C>T | XP_011513729.1:p.Asn877= | |
| XM_011515428.1:c.2475C>T | XP_011513730.1:p.Asn825= | |
| XM_011515429.1:c.2268C>T | XP_011513731.1:p.Asn756= | |
| XM_011515430.1:c.2268C>T | XP_011513732.1:p.Asn756= | |
| NM_000535.6:c.2586C>T | NP_000526.2:p.Asn862= | |
| NM_001322003.1:c.2181C>T | NP_001308932.1:p.Asn727= | |
| NM_001322004.1:c.2181C>T | NP_001308933.1:p.Asn727= | |
| NM_001322005.1:c.2181C>T | NP_001308934.1:p.Asn727= | |
| NM_001322006.1:c.2430C>T | NP_001308935.1:p.Asn810= | |
| NM_001322007.1:c.2268C>T | NP_001308936.1:p.Asn756= | |
| NM_001322008.1:c.2268C>T | NP_001308937.1:p.Asn756= | |
| NM_001322009.1:c.2214C>T | NP_001308938.1:p.Asn738= | |
| NM_001322010.1:c.2025C>T | NP_001308939.1:p.Asn675= | |
| NM_001322011.1:c.1653C>T | NP_001308940.1:p.Asn551= | |
| NM_001322012.1:c.1653C>T | NP_001308941.1:p.Asn551= | |
| NM_001322013.1:c.2013C>T | NP_001308942.1:p.Asn671= | |
| NM_001322014.1:c.2619C>T | NP_001308943.1:p.Asn873= | |
| NM_001322015.1:c.2277C>T | NP_001308944.1:p.Asn759= | |
| NR_136154.1:n.2630C>T | ||
| XM_006715744.4:c.1653C>T | XP_006715807.1:p.Asn551= | |
| XM_017012342.2:c.1653C>T | XP_016867831.1:p.Asn551= | |
| XM_024446800.1:c.2025C>T | XP_024302568.1:p.Asn675= | |
| NM_000535.7:c.2586C>T MANE Select | NP_000526.2:p.Asn862= | |
| NM_001322003.2:c.2181C>T | NP_001308932.1:p.Asn727= | |
| NM_001322004.2:c.2181C>T | NP_001308933.1:p.Asn727= | |
| NM_001322005.2:c.2181C>T | NP_001308934.1:p.Asn727= | |
| NM_001322006.2:c.2430C>T | NP_001308935.1:p.Asn810= | |
| NM_001322008.2:c.2268C>T | NP_001308937.1:p.Asn756= | |
| NM_001322009.2:c.2214C>T | NP_001308938.1:p.Asn738= | |
| NM_001322010.2:c.2025C>T | NP_001308939.1:p.Asn675= | |
| NM_001322011.2:c.1653C>T | NP_001308940.1:p.Asn551= | |
| NM_001322012.2:c.1653C>T | NP_001308941.1:p.Asn551= | |
| NM_001322013.2:c.2013C>T | NP_001308942.1:p.Asn671= | |
| NM_001322014.2:c.2619C>T | NP_001308943.1:p.Asn873= | |
| NM_001322015.2:c.2277C>T | NP_001308944.1:p.Asn759= | |
| NM_001322007.2:c.2268C>T | NP_001308936.1:p.Asn756= |