Linked Data
ClinVar Variation Id:
50822
ClinVar RCV Id:
RCV003156068
dbSNP Id:
rs587776975
gnomAD v4:
22-31893655-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31893655G>A , CM000684.2:g.31893655G>A | GRCh38 |
| NC_000022.10:g.32289641G>A , CM000684.1:g.32289641G>A | GRCh37 |
| NC_000022.9:g.30619641G>A | NCBI36 |
| NG_034067.1:g.144705G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382112.8:c.4107G>A | ENSP00000371546.4:p.Trp1369Ter | |
| ENST00000400246.7:c.3807G>A | ENSP00000383105.3:p.Trp1269Ter | |
| ENST00000400248.7:c.4014G>A | ENSP00000383107.1:p.Trp1338Ter | |
| ENST00000400249.7:c.4041G>A | ENSP00000383108.3:p.Trp1347Ter | |
| ENST00000433147.2:c.4023G>A | ENSP00000410544.2:p.Trp1341Ter | |
| ENST00000448753.6:c.2054G>A | ENSP00000402173.1:n.2054G>A | |
| ENST00000479261.2:n.990G>A | ||
| ENST00000535622.6:c.3807G>A | ENSP00000440210.1:p.Trp1269Ter | |
| ENST00000642212.1:n.829G>A | ||
| ENST00000642684.1:c.*3729G>A | ENSP00000494554.1:n.*3729G>A | |
| ENST00000642696.1:c.4014G>A | ENSP00000495917.1:p.Trp1338Ter | |
| ENST00000642771.1:c.*2118G>A | ENSP00000496278.1:n.*2118G>A | |
| ENST00000642915.1:n.817G>A | ||
| ENST00000642956.1:n.847G>A | ||
| ENST00000643021.1:n.1066G>A | ||
| ENST00000643097.1:n.1038G>A | ||
| ENST00000643395.1:c.*74G>A | ENSP00000496630.1:n.*74G>A | |
| ENST00000643751.2:c.*223G>A | ENSP00000495496.1:n.*223G>A | |
| ENST00000644162.1:c.*2735G>A | ENSP00000495371.1:n.*2735G>A | |
| ENST00000644331.1:c.4041G>A | ENSP00000494406.1:p.Trp1347Ter | |
| ENST00000644690.1:n.1046G>A | ||
| ENST00000645407.1:c.4065G>A | ENSP00000496252.1:p.Trp1355Ter | |
| ENST00000645494.1:c.*2091G>A | ENSP00000495338.1:n.*2091G>A | |
| ENST00000645547.1:c.910G>A | ENSP00000496023.1:n.910G>A | |
| ENST00000645560.1:c.3873G>A | ENSP00000495544.1:p.Trp1291Ter | |
| ENST00000645711.1:c.4080G>A | ENSP00000493489.1:p.Trp1360Ter | |
| ENST00000645755.1:c.*2913G>A | ENSP00000495873.1:n.*2913G>A | |
| ENST00000646135.1:n.1579G>A | ||
| ENST00000646383.1:n.949G>A | ||
| ENST00000646465.1:c.3873G>A | ENSP00000495655.1:p.Trp1291Ter | |
| ENST00000646515.1:c.*593G>A | ENSP00000494700.1:n.*593G>A | |
| ENST00000646701.1:c.1787-62484G>A | ENSP00000496158.1:n.1787-62484G>A | |
| ENST00000646830.1:n.972G>A | ||
| ENST00000646969.1:c.3873G>A | ENSP00000496724.1:p.Trp1291Ter | |
| ENST00000646998.1:c.*74G>A | ENSP00000494662.1:n.*74G>A | |
| ENST00000647343.1:c.4023G>A | ENSP00000494879.1:p.Trp1341Ter | |
| ENST00000651528.2:c.4107G>A MANE Select | ENSP00000498382.1:p.Trp1369Ter | |
| ENST00000382111.6:c.4107G>A | ENSP00000371545.2:p.Trp1369Ter | |
| ENST00000382112.7:c.4080G>A | ENSP00000371546.3:p.Trp1360Ter | |
| ENST00000400246.5:c.4107G>A | ENSP00000383105.2:p.Trp1369Ter | |
| ENST00000400248.6:c.4014G>A | ENSP00000383107.1:p.Trp1338Ter | |
| ENST00000400249.6:c.4014G>A | ENSP00000383108.2:p.Trp1338Ter | |
| ENST00000433147.1:c.2233G>A | ||
| ENST00000448753.5:c.2054G>A | ENSP00000402173.1:n.2054G>A | |
| ENST00000535622.5:c.3807G>A | ENSP00000440210.1:p.Trp1269Ter | |
| NM_001136029.2:c.4080G>A | NP_001129501.1:p.Trp1360Ter | |
| NM_001242896.1:c.4107G>A | NP_001229825.1:p.Trp1369Ter | |
| NM_001242897.1:c.3807G>A | NP_001229826.1:p.Trp1269Ter | |
| NM_014662.4:c.4014G>A | NP_055477.1:p.Trp1338Ter | |
| NR_110988.1:n.3900G>A | ||
| XM_005261862.1:c.4107G>A | XP_005261919.1:p.Trp1369Ter | |
| XM_011530557.1:c.4080G>A | XP_011528859.1:p.Trp1360Ter | |
| XM_011530558.1:c.4041G>A | XP_011528860.1:p.Trp1347Ter | |
| XM_011530559.1:c.4014G>A | XP_011528861.1:p.Trp1338Ter | |
| XM_011530560.1:c.3873G>A | XP_011528862.1:p.Trp1291Ter | |
| XM_011530561.1:c.3846G>A | XP_011528863.1:p.Trp1282Ter | |
| XM_011530562.1:c.4107G>A | XP_011528864.1:p.Trp1369Ter | |
| XM_011530563.1:c.3807G>A | XP_011528865.1:p.Trp1269Ter | |
| XM_011530564.1:c.4107G>A | XP_011528866.1:p.Trp1369Ter | |
| XM_011530565.1:c.*74G>A | XP_011528867.1:n.*74G>A | |
| XM_011530569.1:c.2001G>A | XP_011528871.1:p.Trp667Ter | |
| XR_937972.1:n.4374G>A | ||
| XR_937973.1:n.3961G>A | ||
| NM_001136029.3:c.4080G>A | NP_001129501.1:p.Trp1360Ter | |
| NM_001242896.2:c.4107G>A | NP_001229825.1:p.Trp1369Ter | |
| NM_001363852.1:c.4041G>A | NP_001350781.1:p.Trp1347Ter | |
| NM_001363854.1:c.3873G>A | NP_001350783.1:p.Trp1291Ter | |
| NM_001364318.1:c.4107G>A | NP_001351247.1:p.Trp1369Ter | |
| NM_001364319.1:c.3873G>A | NP_001351248.1:p.Trp1291Ter | |
| NM_001364320.1:c.4041G>A | NP_001351249.1:p.Trp1347Ter | |
| NM_014662.5:c.4014G>A | NP_055477.1:p.Trp1338Ter | |
| NR_110988.2:n.3904G>A | ||
| NR_146296.1:n.4296G>A | ||
| NR_157125.1:n.4004G>A | ||
| NR_157126.1:n.3876G>A | ||
| NR_157128.1:n.4138G>A | ||
| XM_011530557.2:c.4080G>A | XP_011528859.1:p.Trp1360Ter | |
| XM_011530559.2:c.4014G>A | XP_011528861.1:p.Trp1338Ter | |
| XM_011530561.2:c.3846G>A | XP_011528863.1:p.Trp1282Ter | |
| XM_011530562.2:c.4107G>A | XP_011528864.1:p.Trp1369Ter | |
| XM_011530563.2:c.3807G>A | XP_011528865.1:p.Trp1269Ter | |
| XM_011530565.2:c.*74G>A | XP_011528867.1:n.*74G>A | |
| XM_011530569.2:c.2001G>A | XP_011528871.1:p.Trp667Ter | |
| XM_024452305.1:c.1974G>A | XP_024308073.1:p.Trp658Ter | |
| XR_001755389.1:n.4316G>A | ||
| XR_001755390.1:n.4386G>A | ||
| XR_937973.2:n.3973G>A | ||
| NM_001242896.3:c.4107G>A MANE Select | NP_001229825.1:p.Trp1369Ter | |
| NM_001242897.2:c.3807G>A | NP_001229826.1:p.Trp1269Ter | |
| NM_001363852.2:c.4041G>A | NP_001350781.1:p.Trp1347Ter | |
| NM_001363854.2:c.3873G>A | NP_001350783.1:p.Trp1291Ter | |
| NM_001369901.1:c.4023G>A | NP_001356830.1:p.Trp1341Ter | |
| NM_001369902.1:c.4023G>A | NP_001356831.1:p.Trp1341Ter | |
| NM_001369903.1:c.4014G>A | NP_001356832.1:p.Trp1338Ter | |
| NR_146296.2:n.4279G>A | ||
| NM_001136029.4:c.4080G>A | NP_001129501.1:p.Trp1360Ter | |
| NM_001364318.2:c.4107G>A | NP_001351247.1:p.Trp1369Ter | |
| NM_001364319.2:c.3873G>A | NP_001351248.1:p.Trp1291Ter | |
| NM_001364320.2:c.4041G>A | NP_001351249.1:p.Trp1347Ter | |
| NM_014662.6:c.4014G>A | NP_055477.1:p.Trp1338Ter | |
| NR_157125.2:n.4004G>A | ||
| NR_157126.2:n.3876G>A |