Linked Data
ClinVar Variation Id:
235658
dbSNP Id:
rs141246107
ExAC:
3:49455040 C / T
gnomAD v2:
3-49455040-C-T
gnomAD v3:
3-49417607-C-T
gnomAD v4:
3-49417607-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49417607C>T , CM000665.2:g.49417607C>T | GRCh38 |
| NC_000003.11:g.49455040C>T , CM000665.1:g.49455040C>T | GRCh37 |
| NC_000003.10:g.49430044C>T | NCBI36 |
| NG_015986.1:g.10072G>A , LRG_537:g.10072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.1145G>A MANE Select | ENSP00000273588.3:p.Arg382Gln | |
| ENST00000395338.7:c.1137+8G>A | ENSP00000378747.2:n.1137+8G>A | |
| ENST00000399379.7:c.877G>A | ENSP00000399943.2:n.877G>A | |
| ENST00000427987.6:c.993+8G>A | ENSP00000403821.2:n.993+8G>A | |
| ENST00000465925.6:n.3147G>A | ||
| ENST00000473163.2:n.3761G>A | ||
| ENST00000476127.6:n.1374G>A | ||
| ENST00000476226.6:n.1566G>A | ||
| ENST00000478594.6:n.1564+8G>A | ||
| ENST00000493046.6:n.2861G>A | ||
| ENST00000538581.6:c.1001G>A | ENSP00000443200.2:p.Arg334Gln | |
| ENST00000635772.1:n.1983G>A | ||
| ENST00000635798.1:n.503G>A | ||
| ENST00000635808.1:c.1056+8G>A | ENSP00000489620.1:n.1056+8G>A | |
| ENST00000635889.1:n.1638G>A | ||
| ENST00000635907.1:n.703G>A | ||
| ENST00000635936.1:n.1413G>A | ||
| ENST00000636023.1:c.*318G>A | ENSP00000489969.1:n.*318G>A | |
| ENST00000636070.1:c.*925G>A | ENSP00000490160.1:n.*925G>A | |
| ENST00000636148.1:n.3198G>A | ||
| ENST00000636166.1:c.1382G>A | ENSP00000490106.1:p.Arg461Gln | |
| ENST00000636188.1:c.316+8G>A | ||
| ENST00000636199.1:c.707G>A | ENSP00000490871.1:p.Arg236Gln | |
| ENST00000636204.1:n.2427G>A | ||
| ENST00000636461.1:c.4679G>A | ||
| ENST00000636522.1:c.977G>A | ENSP00000489758.1:p.Arg326Gln | |
| ENST00000636587.1:n.1231G>A | ||
| ENST00000636594.1:n.766G>A | ||
| ENST00000636597.1:c.662G>A | ENSP00000490251.1:p.Arg221Gln | |
| ENST00000636725.1:n.1861G>A | ||
| ENST00000636803.1:n.1479+8G>A | ||
| ENST00000636865.1:c.989G>A | ENSP00000490601.1:p.Arg330Gln | |
| ENST00000636871.1:n.1502+8G>A | ||
| ENST00000636978.1:n.1249+8G>A | ||
| ENST00000636991.1:n.1590G>A | ||
| ENST00000637059.1:c.597G>A | ENSP00000490153.1:n.597G>A | |
| ENST00000637088.1:n.5957G>A | ||
| ENST00000637114.1:n.1245G>A | ||
| ENST00000637268.1:n.2046G>A | ||
| ENST00000637291.1:n.1879G>A | ||
| ENST00000637442.1:n.3366G>A | ||
| ENST00000637455.1:c.948+8G>A | ENSP00000489628.1:n.948+8G>A | |
| ENST00000637457.1:n.2006G>A | ||
| ENST00000637527.1:n.437G>A | ||
| ENST00000637682.1:c.989G>A | ENSP00000489856.1:p.Arg330Gln | |
| ENST00000637684.1:n.1355G>A | ||
| ENST00000637821.1:c.*1340G>A | ENSP00000490482.1:n.*1340G>A | |
| ENST00000637914.1:n.3039G>A | ||
| ENST00000637982.1:n.1559G>A | ||
| ENST00000637994.1:n.1685G>A | ||
| ENST00000638014.1:c.3926G>A | ||
| ENST00000638063.1:c.1064G>A | ENSP00000489760.1:p.Arg355Gln | |
| ENST00000638079.1:c.*1657G>A | ENSP00000490120.1:n.*1657G>A | |
| ENST00000638092.1:n.1665G>A | ||
| ENST00000638115.1:c.*2906G>A | ENSP00000490296.1:n.*2906G>A | |
| ENST00000273588.7:c.1145G>A | ENSP00000273588.3:p.Arg382Gln | |
| ENST00000395338.6:c.1137+8G>A | ENSP00000378747.2:n.1137+8G>A | |
| ENST00000399379.6:c.*925G>A | ENSP00000399943.1:n.*925G>A | |
| ENST00000427987.5:c.1129+8G>A | ||
| ENST00000458307.6:c.1013G>A | ENSP00000415619.2:p.Arg338Gln | |
| ENST00000465925.5:n.2443G>A | ||
| ENST00000476127.5:n.904G>A | ||
| ENST00000476226.5:n.1210G>A | ||
| ENST00000495436.5:n.766G>A | ||
| ENST00000538581.5:c.977G>A | ENSP00000443200.1:p.Arg326Gln | |
| NM_000481.3:c.1145G>A , LRG_537t1:c.1145G>A | NP_000472.2:p.Arg382Gln | |
| NM_001164710.1:c.1013G>A | NP_001158182.1:p.Arg338Gln | |
| NM_001164711.1:c.977G>A | NP_001158183.1:p.Arg326Gln | |
| NM_001164712.1:c.1137+8G>A | NP_001158184.1:n.1137+8G>A | |
| NR_028435.1:n.1359G>A | ||
| NM_000481.4:c.1145G>A MANE Select | NP_000472.2:p.Arg382Gln | |
| NM_001164710.2:c.1013G>A | NP_001158182.1:p.Arg338Gln | |
| NM_001164711.2:c.977G>A | NP_001158183.1:p.Arg326Gln | |
| NM_001164712.2:c.1137+8G>A | NP_001158184.1:n.1137+8G>A | |
| NR_028435.2:n.1154G>A |