Linked Data
ClinVar Variation Id:
1793202
ClinVar RCV Id:
RCV002425987
gnomAD v3:
7-5973419-C-A
gnomAD v4:
7-5973419-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5973419C>A , CM000669.2:g.5973419C>A | GRCh38 |
| NC_000007.13:g.6013050C>A , CM000669.1:g.6013050C>A | GRCh37 |
| NC_000007.12:g.5979576C>A | NCBI36 |
| NG_008466.1:g.40688G>T , LRG_161:g.40688G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1965G>T | ENSP00000514615.2:n.*1965G>T | |
| ENST00000699840.2:c.2566G>T | ENSP00000514638.2:p.Gly856Cys | |
| ENST00000699930.2:c.2461G>T | ENSP00000514695.2:p.Gly821Cys | |
| ENST00000406569.8:c.1929G>T | ENSP00000514464.1:n.1929G>T | |
| ENST00000644110.2:c.*2163G>T | ENSP00000496392.2:n.*2163G>T | |
| ENST00000699752.1:c.2413G>T | ENSP00000514561.1:p.Gly805Cys | |
| ENST00000699753.1:c.*1990G>T | ENSP00000514562.1:n.*1990G>T | |
| ENST00000699754.1:c.2371G>T | ENSP00000514563.1:p.Gly791Cys | |
| ENST00000699755.1:c.*1968G>T | ENSP00000514564.1:n.*1968G>T | |
| ENST00000699756.1:c.*2156G>T | ENSP00000514565.1:n.*2156G>T | |
| ENST00000699757.1:c.*1826G>T | ENSP00000514566.1:n.*1826G>T | |
| ENST00000699758.1:c.*1826G>T | ENSP00000514567.1:n.*1826G>T | |
| ENST00000699759.1:n.3423G>T | ||
| ENST00000699760.1:c.2251G>T | ENSP00000514568.1:p.Gly751Cys | |
| ENST00000699761.1:c.2164G>T | ENSP00000514569.1:p.Gly722Cys | |
| ENST00000699762.1:c.1996G>T | ENSP00000514570.1:p.Gly666Cys | |
| ENST00000699763.1:c.*1659G>T | ENSP00000514571.1:n.*1659G>T | |
| ENST00000699764.1:c.*887G>T | ENSP00000514572.1:n.*887G>T | |
| ENST00000699765.1:c.*1564G>T | ENSP00000514573.1:n.*1564G>T | |
| ENST00000699766.1:c.2602G>T | ENSP00000514574.1:p.Gly868Cys | |
| ENST00000699767.1:c.*210G>T | ENSP00000514575.1:n.*210G>T | |
| ENST00000699768.1:c.2425G>T | ENSP00000514576.1:p.Gly809Cys | |
| ENST00000699811.1:c.2164G>T | ENSP00000514614.1:p.Gly722Cys | |
| ENST00000699813.1:n.2682G>T | ||
| ENST00000699814.1:c.2192G>T | ||
| ENST00000699815.1:c.*2100G>T | ENSP00000514616.1:n.*2100G>T | |
| ENST00000699816.1:c.*1459G>T | ENSP00000514617.1:n.*1459G>T | |
| ENST00000699817.1:c.*2163G>T | ENSP00000514618.1:n.*2163G>T | |
| ENST00000699818.1:c.2164G>T | ENSP00000514619.1:p.Gly722Cys | |
| ENST00000699819.1:c.*1726G>T | ENSP00000514620.1:n.*1726G>T | |
| ENST00000699820.1:c.*507G>T | ENSP00000514621.1:n.*507G>T | |
| ENST00000699821.1:c.2197G>T | ENSP00000514622.1:p.Gly733Cys | |
| ENST00000699822.1:c.*2021G>T | ENSP00000514623.1:n.*2021G>T | |
| ENST00000699823.1:c.2164G>T | ENSP00000514624.1:p.Gly722Cys | |
| ENST00000699824.1:c.*2072G>T | ENSP00000514625.1:n.*2072G>T | |
| ENST00000699825.1:c.2008G>T | ENSP00000514626.1:p.Gly670Cys | |
| ENST00000699826.1:c.*1968G>T | ENSP00000514627.1:n.*1968G>T | |
| ENST00000699827.1:c.2401G>T | ENSP00000514628.1:p.Gly801Cys | |
| ENST00000699828.1:c.*1659G>T | ENSP00000514629.1:n.*1659G>T | |
| ENST00000699833.1:n.4341G>T | ||
| ENST00000699837.1:c.2164G>T | ENSP00000514635.1:p.Gly722Cys | |
| ENST00000699838.1:c.*2469G>T | ENSP00000514636.1:n.*2469G>T | |
| ENST00000699839.1:c.2755G>T | ENSP00000514637.1:p.Gly919Cys | |
| ENST00000699916.1:c.*1826G>T | ENSP00000514684.1:n.*1826G>T | |
| ENST00000699917.1:c.*2018G>T | ENSP00000514685.1:n.*2018G>T | |
| ENST00000699918.1:c.*2070G>T | ENSP00000514686.1:n.*2070G>T | |
| ENST00000699919.1:c.*2156G>T | ENSP00000514687.1:n.*2156G>T | |
| ENST00000699920.1:c.*2205G>T | ENSP00000514688.1:n.*2205G>T | |
| ENST00000699928.1:c.*507G>T | ENSP00000514693.1:n.*507G>T | |
| ENST00000699951.1:c.*1622G>T | ENSP00000514706.1:n.*1622G>T | |
| ENST00000699952.1:c.*123G>T | ENSP00000514707.1:n.*123G>T | |
| ENST00000265849.12:c.2569G>T MANE Select | ENSP00000265849.7:p.Gly857Cys | |
| ENST00000642292.1:c.2164G>T | ENSP00000495524.1:p.Gly722Cys | |
| ENST00000642456.1:c.2164G>T | ENSP00000493814.1:p.Gly722Cys | |
| ENST00000643595.1:c.*1968G>T | ENSP00000494497.1:n.*1968G>T | |
| ENST00000644110.1:c.2251G>T | ENSP00000496392.1:p.Gly751Cys | |
| ENST00000265849.11:c.2569G>T | ENSP00000265849.7:p.Gly857Cys | |
| ENST00000382321.5:c.1366G>T | ENSP00000371758.4:p.Gly456Cys | |
| ENST00000441476.6:c.2251G>T | ENSP00000392843.2:p.Gly751Cys | |
| NM_000535.5:c.2569G>T , LRG_161t1:c.2569G>T | NP_000526.1:p.Gly857Cys | |
| NR_003085.2:n.2651G>T | ||
| XM_006715742.2:c.2563G>T | XP_006715805.1:p.Gly855Cys | |
| XM_006715744.2:c.1636G>T | XP_006715807.1:p.Gly546Cys | |
| XM_011515427.1:c.2614G>T | XP_011513729.1:p.Gly872Cys | |
| XM_011515428.1:c.2458G>T | XP_011513730.1:p.Gly820Cys | |
| XM_011515429.1:c.2251G>T | XP_011513731.1:p.Gly751Cys | |
| XM_011515430.1:c.2251G>T | XP_011513732.1:p.Gly751Cys | |
| NM_000535.6:c.2569G>T | NP_000526.2:p.Gly857Cys | |
| NM_001322003.1:c.2164G>T | NP_001308932.1:p.Gly722Cys | |
| NM_001322004.1:c.2164G>T | NP_001308933.1:p.Gly722Cys | |
| NM_001322005.1:c.2164G>T | NP_001308934.1:p.Gly722Cys | |
| NM_001322006.1:c.2413G>T | NP_001308935.1:p.Gly805Cys | |
| NM_001322007.1:c.2251G>T | NP_001308936.1:p.Gly751Cys | |
| NM_001322008.1:c.2251G>T | NP_001308937.1:p.Gly751Cys | |
| NM_001322009.1:c.2197G>T | NP_001308938.1:p.Gly733Cys | |
| NM_001322010.1:c.2008G>T | NP_001308939.1:p.Gly670Cys | |
| NM_001322011.1:c.1636G>T | NP_001308940.1:p.Gly546Cys | |
| NM_001322012.1:c.1636G>T | NP_001308941.1:p.Gly546Cys | |
| NM_001322013.1:c.1996G>T | NP_001308942.1:p.Gly666Cys | |
| NM_001322014.1:c.2602G>T | NP_001308943.1:p.Gly868Cys | |
| NM_001322015.1:c.2260G>T | NP_001308944.1:p.Gly754Cys | |
| NR_136154.1:n.2613G>T | ||
| XM_006715744.4:c.1636G>T | XP_006715807.1:p.Gly546Cys | |
| XM_017012342.2:c.1636G>T | XP_016867831.1:p.Gly546Cys | |
| XM_024446800.1:c.2008G>T | XP_024302568.1:p.Gly670Cys | |
| NM_000535.7:c.2569G>T MANE Select | NP_000526.2:p.Gly857Cys | |
| NM_001322003.2:c.2164G>T | NP_001308932.1:p.Gly722Cys | |
| NM_001322004.2:c.2164G>T | NP_001308933.1:p.Gly722Cys | |
| NM_001322005.2:c.2164G>T | NP_001308934.1:p.Gly722Cys | |
| NM_001322006.2:c.2413G>T | NP_001308935.1:p.Gly805Cys | |
| NM_001322008.2:c.2251G>T | NP_001308937.1:p.Gly751Cys | |
| NM_001322009.2:c.2197G>T | NP_001308938.1:p.Gly733Cys | |
| NM_001322010.2:c.2008G>T | NP_001308939.1:p.Gly670Cys | |
| NM_001322011.2:c.1636G>T | NP_001308940.1:p.Gly546Cys | |
| NM_001322012.2:c.1636G>T | NP_001308941.1:p.Gly546Cys | |
| NM_001322013.2:c.1996G>T | NP_001308942.1:p.Gly666Cys | |
| NM_001322014.2:c.2602G>T | NP_001308943.1:p.Gly868Cys | |
| NM_001322015.2:c.2260G>T | NP_001308944.1:p.Gly754Cys | |
| NM_001322007.2:c.2251G>T | NP_001308936.1:p.Gly751Cys |