WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
91382
ClinVar RCV Id:
RCV000076901
RCV000115711
RCV000148734
RCV000212858
RCV000524484
RCV000576503
RCV000763587
RCV001354630
RCV003162501
dbSNP Id:
rs200640585
ExAC:
7:6031649 G / A
gnomAD v2:
7-6031649-G-A
gnomAD v3:
7-5992018-G-A
gnomAD v4:
7-5992018-G-A
COSMIC:
COSM3084729
CIViC:
CA013335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5992018G>A , CM000669.2:g.5992018G>A | GRCh38 |
| NC_000007.13:g.6031649G>A , CM000669.1:g.6031649G>A | GRCh37 |
| NC_000007.12:g.5998175G>A | NCBI36 |
| NG_008466.1:g.22089C>T , LRG_161:g.22089C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*339C>T | ENSP00000514615.2:n.*339C>T | |
| ENST00000699840.2:c.940C>T | ENSP00000514638.2:p.Arg314Ter | |
| ENST00000699930.2:c.835C>T | ENSP00000514695.2:p.Arg279Ter | |
| ENST00000406569.8:c.943C>T | ENSP00000514464.1:p.Arg315Ter | |
| ENST00000644110.2:c.*537C>T | ENSP00000496392.2:n.*537C>T | |
| ENST00000699752.1:c.943C>T | ENSP00000514561.1:p.Arg315Ter | |
| ENST00000699753.1:c.*242C>T | ENSP00000514562.1:n.*242C>T | |
| ENST00000699754.1:c.745C>T | ENSP00000514563.1:p.Arg249Ter | |
| ENST00000699755.1:c.*342C>T | ENSP00000514564.1:n.*342C>T | |
| ENST00000699756.1:c.*530C>T | ENSP00000514565.1:n.*530C>T | |
| ENST00000699757.1:c.*200C>T | ENSP00000514566.1:n.*200C>T | |
| ENST00000699758.1:c.*200C>T | ENSP00000514567.1:n.*200C>T | |
| ENST00000699759.1:n.1797C>T | ||
| ENST00000699760.1:c.625C>T | ENSP00000514568.1:p.Arg209Ter | |
| ENST00000699761.1:c.538C>T | ENSP00000514569.1:p.Arg180Ter | |
| ENST00000699762.1:c.370C>T | ENSP00000514570.1:p.Arg124Ter | |
| ENST00000699763.1:c.538C>T | ENSP00000514571.1:p.Arg180Ter | |
| ENST00000699764.1:c.943C>T | ENSP00000514572.1:p.Arg315Ter | |
| ENST00000699765.1:c.*39C>T | ENSP00000514573.1:n.*39C>T | |
| ENST00000699766.1:c.943C>T | ENSP00000514574.1:p.Arg315Ter | |
| ENST00000699767.1:c.943C>T | ENSP00000514575.1:p.Arg315Ter | |
| ENST00000699768.1:c.943C>T | ENSP00000514576.1:p.Arg315Ter | |
| ENST00000699811.1:c.538C>T | ENSP00000514614.1:p.Arg180Ter | |
| ENST00000699813.1:n.1056C>T | ||
| ENST00000699814.1:c.566C>T | ||
| ENST00000699815.1:c.*435C>T | ENSP00000514616.1:n.*435C>T | |
| ENST00000699816.1:c.538C>T | ENSP00000514617.1:p.Arg180Ter | |
| ENST00000699817.1:c.*537C>T | ENSP00000514618.1:n.*537C>T | |
| ENST00000699818.1:c.538C>T | ENSP00000514619.1:p.Arg180Ter | |
| ENST00000699819.1:c.*100C>T | ENSP00000514620.1:n.*100C>T | |
| ENST00000699820.1:c.943C>T | ENSP00000514621.1:p.Arg315Ter | |
| ENST00000699821.1:c.538C>T | ENSP00000514622.1:p.Arg180Ter | |
| ENST00000699822.1:c.*395C>T | ENSP00000514623.1:n.*395C>T | |
| ENST00000699823.1:c.538C>T | ENSP00000514624.1:p.Arg180Ter | |
| ENST00000699824.1:c.*446C>T | ENSP00000514625.1:n.*446C>T | |
| ENST00000699825.1:c.538C>T | ENSP00000514626.1:p.Arg180Ter | |
| ENST00000699826.1:c.*342C>T | ENSP00000514627.1:n.*342C>T | |
| ENST00000699827.1:c.775C>T | ENSP00000514628.1:p.Arg259Ter | |
| ENST00000699828.1:c.943C>T | ENSP00000514629.1:p.Arg315Ter | |
| ENST00000699829.1:c.*444C>T | ENSP00000514630.1:n.*444C>T | |
| ENST00000699830.1:c.*342C>T | ENSP00000514631.1:n.*342C>T | |
| ENST00000699833.1:n.2715C>T | ||
| ENST00000699837.1:c.538C>T | ENSP00000514635.1:p.Arg180Ter | |
| ENST00000699838.1:c.*843C>T | ENSP00000514636.1:n.*843C>T | |
| ENST00000699839.1:c.1129C>T | ENSP00000514637.1:p.Arg377Ter | |
| ENST00000699840.1:c.940C>T | ENSP00000514638.1:p.Arg314Ter | |
| ENST00000699916.1:c.*200C>T | ENSP00000514684.1:n.*200C>T | |
| ENST00000699917.1:c.*392C>T | ENSP00000514685.1:n.*392C>T | |
| ENST00000699918.1:c.*444C>T | ENSP00000514686.1:n.*444C>T | |
| ENST00000699919.1:c.*530C>T | ENSP00000514687.1:n.*530C>T | |
| ENST00000699920.1:c.*579C>T | ENSP00000514688.1:n.*579C>T | |
| ENST00000699928.1:c.943C>T | ENSP00000514693.1:p.Arg315Ter | |
| ENST00000699929.1:c.*244C>T | ENSP00000514694.1:n.*244C>T | |
| ENST00000699930.1:c.835C>T | ENSP00000514695.1:p.Arg279Ter | |
| ENST00000699931.1:n.2371C>T | ||
| ENST00000699932.1:c.*39C>T | ENSP00000514696.1:n.*39C>T | |
| ENST00000699933.1:n.923C>T | ||
| ENST00000699951.1:c.*39C>T | ENSP00000514706.1:n.*39C>T | |
| ENST00000699952.1:c.803+5308C>T | ENSP00000514707.1:n.803+5308C>T | |
| ENST00000699953.1:c.*50C>T | ENSP00000514708.1:n.*50C>T | |
| ENST00000699954.1:c.*244C>T | ENSP00000514709.1:n.*244C>T | |
| ENST00000265849.12:c.943C>T MANE Select | ENSP00000265849.7:p.Arg315Ter | |
| ENST00000642292.1:c.538C>T | ENSP00000495524.1:p.Arg180Ter | |
| ENST00000642456.1:c.538C>T | ENSP00000493814.1:p.Arg180Ter | |
| ENST00000643595.1:c.*342C>T | ENSP00000494497.1:n.*342C>T | |
| ENST00000644110.1:c.625C>T | ENSP00000496392.1:p.Arg209Ter | |
| ENST00000265849.11:c.943C>T | ENSP00000265849.7:p.Arg315Ter | |
| ENST00000382321.5:c.803+5308C>T | ENSP00000371758.4:n.803+5308C>T | |
| ENST00000406569.7:n.943C>T | ||
| ENST00000441476.6:c.625C>T | ENSP00000392843.2:p.Arg209Ter | |
| ENST00000469652.1:n.63-9113C>T | ||
| NM_000535.5:c.943C>T , LRG_161t1:c.943C>T | NP_000526.1:p.Arg315Ter | |
| NR_003085.2:n.1025C>T | ||
| XM_006715742.2:c.937C>T | XP_006715805.1:p.Arg313Ter | |
| XM_006715744.2:c.10C>T | XP_006715807.1:p.Arg4Ter | |
| XM_011515427.1:c.988C>T | XP_011513729.1:p.Arg330Ter | |
| XM_011515428.1:c.988C>T | XP_011513730.1:p.Arg330Ter | |
| XM_011515429.1:c.625C>T | XP_011513731.1:p.Arg209Ter | |
| XM_011515430.1:c.625C>T | XP_011513732.1:p.Arg209Ter | |
| NM_000535.6:c.943C>T | NP_000526.2:p.Arg315Ter | |
| NM_001322003.1:c.538C>T | NP_001308932.1:p.Arg180Ter | |
| NM_001322004.1:c.538C>T | NP_001308933.1:p.Arg180Ter | |
| NM_001322005.1:c.538C>T | NP_001308934.1:p.Arg180Ter | |
| NM_001322006.1:c.943C>T | NP_001308935.1:p.Arg315Ter | |
| NM_001322007.1:c.625C>T | NP_001308936.1:p.Arg209Ter | |
| NM_001322008.1:c.625C>T | NP_001308937.1:p.Arg209Ter | |
| NM_001322009.1:c.538C>T | NP_001308938.1:p.Arg180Ter | |
| NM_001322010.1:c.538C>T | NP_001308939.1:p.Arg180Ter | |
| NM_001322011.1:c.10C>T | NP_001308940.1:p.Arg4Ter | |
| NM_001322012.1:c.10C>T | NP_001308941.1:p.Arg4Ter | |
| NM_001322013.1:c.370C>T | NP_001308942.1:p.Arg124Ter | |
| NM_001322014.1:c.943C>T | NP_001308943.1:p.Arg315Ter | |
| NM_001322015.1:c.634C>T | NP_001308944.1:p.Arg212Ter | |
| NR_136154.1:n.1030C>T | ||
| XM_006715744.4:c.10C>T | XP_006715807.1:p.Arg4Ter | |
| XM_017012342.2:c.10C>T | XP_016867831.1:p.Arg4Ter | |
| XM_024446800.1:c.538C>T | XP_024302568.1:p.Arg180Ter | |
| NM_000535.7:c.943C>T MANE Select | NP_000526.2:p.Arg315Ter | |
| NM_001322003.2:c.538C>T | NP_001308932.1:p.Arg180Ter | |
| NM_001322004.2:c.538C>T | NP_001308933.1:p.Arg180Ter | |
| NM_001322005.2:c.538C>T | NP_001308934.1:p.Arg180Ter | |
| NM_001322006.2:c.943C>T | NP_001308935.1:p.Arg315Ter | |
| NM_001322008.2:c.625C>T | NP_001308937.1:p.Arg209Ter | |
| NM_001322009.2:c.538C>T | NP_001308938.1:p.Arg180Ter | |
| NM_001322010.2:c.538C>T | NP_001308939.1:p.Arg180Ter | |
| NM_001322011.2:c.10C>T | NP_001308940.1:p.Arg4Ter | |
| NM_001322012.2:c.10C>T | NP_001308941.1:p.Arg4Ter | |
| NM_001322013.2:c.370C>T | NP_001308942.1:p.Arg124Ter | |
| NM_001322014.2:c.943C>T | NP_001308943.1:p.Arg315Ter | |
| NM_001322015.2:c.634C>T | NP_001308944.1:p.Arg212Ter | |
| NM_001322007.2:c.625C>T | NP_001308936.1:p.Arg209Ter |