Linked Data
ClinVar Variation Id:
39992
ClinVar RCV Id:
RCV000033119
dbSNP Id:
rs398122929
PubMed:
PMID:23076834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.45089911G>A , CM000685.2:g.45089911G>A | GRCh38 |
| NC_000023.10:g.44949156G>A , CM000685.1:g.44949156G>A | GRCh37 |
| NC_000023.9:g.44834100G>A | NCBI36 |
| NG_016260.1:g.221734G>A , LRG_616:g.221734G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682908.1:c.3617G>A | ENSP00000508158.1:n.3617G>A | |
| ENST00000683021.1:c.3636G>A | ENSP00000507416.1:p.Trp1212Ter | |
| ENST00000683425.1:c.*3200G>A | ENSP00000507291.1:n.*3200G>A | |
| ENST00000684352.1:c.3647G>A | ENSP00000508379.1:n.3647G>A | |
| ENST00000377967.9:c.3717G>A | ENSP00000367203.4:p.Trp1239Ter | |
| ENST00000382899.9:c.3738G>A | ENSP00000372355.6:p.Trp1246Ter | |
| ENST00000536777.6:c.3582G>A | ENSP00000437405.3:p.Trp1194Ter | |
| ENST00000543216.6:c.3480G>A | ENSP00000443078.3:p.Trp1160Ter | |
| ENST00000611820.5:c.3873G>A MANE Select | ENSP00000483595.2:p.Trp1291Ter | |
| ENST00000674541.1:c.*3005G>A | ENSP00000501919.1:n.*3005G>A | |
| ENST00000674564.1:c.3636G>A | ENSP00000502150.1:p.Trp1212Ter | |
| ENST00000674586.1:c.3795G>A | ENSP00000502660.1:p.Trp1265Ter | |
| ENST00000674659.1:c.*2955G>A | ENSP00000502255.1:n.*2955G>A | |
| ENST00000674739.1:n.4775G>A | ||
| ENST00000674867.1:c.3579G>A | ENSP00000502060.1:p.Trp1193Ter | |
| ENST00000675157.1:n.3324G>A | ||
| ENST00000675182.1:n.3757G>A | ||
| ENST00000675514.1:c.*268G>A | ENSP00000502759.1:n.*268G>A | |
| ENST00000675525.1:n.5839G>A | ||
| ENST00000675546.1:n.10497G>A | ||
| ENST00000675577.1:c.3615G>A | ENSP00000501855.1:p.Trp1205Ter | |
| ENST00000675816.1:n.3893G>A | ||
| ENST00000676062.1:c.3738G>A | ENSP00000502311.1:p.Trp1246Ter | |
| ENST00000676085.1:c.*2903G>A | ENSP00000501752.1:n.*2903G>A | |
| ENST00000676133.1:c.*3770G>A | ENSP00000502586.1:n.*3770G>A | |
| ENST00000676343.1:c.3738G>A | ENSP00000501761.1:p.Trp1246Ter | |
| ENST00000676389.1:n.4160G>A | ||
| ENST00000377967.8:c.3717G>A | ENSP00000367203.4:p.Trp1239Ter | |
| ENST00000382899.8:c.3666G>A | ENSP00000372355.5:p.Trp1222Ter | |
| ENST00000414389.5:c.2509G>A | ||
| ENST00000433797.5:c.2644G>A | ||
| ENST00000536777.5:c.3510G>A | ENSP00000437405.2:p.Trp1170Ter | |
| ENST00000543216.5:c.3564G>A | ENSP00000443078.2:p.Trp1188Ter | |
| ENST00000611820.4:c.3801G>A | ENSP00000483595.1:p.Trp1267Ter | |
| ENST00000621147.4:c.2595+11418G>A | ENSP00000478793.1:n.2595+11418G>A | |
| NM_001291415.1:c.3873G>A , LRG_616t1:c.3873G>A | NP_001278344.1:p.Trp1291Ter | |
| NM_001291416.1:c.3738G>A | NP_001278345.1:p.Trp1246Ter | |
| NM_001291417.1:c.3582G>A | NP_001278346.1:p.Trp1194Ter | |
| NM_001291418.1:c.3480G>A | NP_001278347.1:p.Trp1160Ter | |
| NM_001291421.1:c.2829G>A | NP_001278350.1:p.Trp943Ter | |
| NM_021140.3:c.3717G>A | NP_066963.2:p.Trp1239Ter | |
| NR_111960.1:n.4013G>A | ||
| XM_005272656.3:c.3771G>A | XP_005272713.1:p.Trp1257Ter | |
| XM_005272659.3:c.3615G>A | XP_005272716.1:p.Trp1205Ter | |
| XM_011543957.1:c.3930G>A | XP_011542259.1:p.Trp1310Ter | |
| XM_011543958.1:c.3873G>A | XP_011542260.1:p.Trp1291Ter | |
| XM_011543959.1:c.3828G>A | XP_011542261.1:p.Trp1276Ter | |
| XM_011543960.1:c.3930G>A | XP_011542262.1:p.Trp1310Ter | |
| XM_011543961.1:c.3795G>A | XP_011542263.1:p.Trp1265Ter | |
| XM_011543962.1:c.3774G>A | XP_011542264.1:p.Trp1258Ter | |
| XM_011543963.1:c.3738G>A | XP_011542265.1:p.Trp1246Ter | |
| XM_011543964.1:c.3717G>A | XP_011542266.1:p.Trp1239Ter | |
| XM_011543965.1:c.3693G>A | XP_011542267.1:p.Trp1231Ter | |
| XM_011543966.1:c.3672G>A | XP_011542268.1:p.Trp1224Ter | |
| XM_011543967.1:c.3774G>A | XP_011542269.1:p.Trp1258Ter | |
| XM_011543968.1:c.3639G>A | XP_011542270.1:p.Trp1213Ter | |
| XM_011543969.1:c.3636G>A | XP_011542271.1:p.Trp1212Ter | |
| XM_011543970.1:c.3615G>A | XP_011542272.1:p.Trp1205Ter | |
| XM_011543971.1:c.3693G>A | XP_011542273.1:p.Trp1231Ter | |
| XM_011543972.1:c.3582G>A | XP_011542274.1:p.Trp1194Ter | |
| XM_011543973.1:c.3639G>A | XP_011542275.1:p.Trp1213Ter | |
| XM_011543974.1:c.3717G>A | XP_011542276.1:p.Trp1239Ter | |
| XM_011543975.1:c.3120G>A | XP_011542277.1:p.Trp1040Ter | |
| XR_949018.1:n.4307G>A | ||
| XM_005272656.5:c.3771G>A | XP_005272713.1:p.Trp1257Ter | |
| XM_005272659.5:c.3615G>A | XP_005272716.1:p.Trp1205Ter | |
| XM_011543958.3:c.3873G>A | XP_011542260.1:p.Trp1291Ter | |
| XM_011543963.3:c.3738G>A | XP_011542265.1:p.Trp1246Ter | |
| XM_011543964.3:c.3717G>A | XP_011542266.1:p.Trp1239Ter | |
| XM_011543969.3:c.3636G>A | XP_011542271.1:p.Trp1212Ter | |
| XM_011543970.3:c.3615G>A | XP_011542272.1:p.Trp1205Ter | |
| XM_011543972.3:c.3582G>A | XP_011542274.1:p.Trp1194Ter | |
| XM_011543974.2:c.3717G>A | XP_011542276.1:p.Trp1239Ter | |
| XM_011543975.2:c.3120G>A | XP_011542277.1:p.Trp1040Ter | |
| XM_017029783.2:c.3636G>A | XP_016885272.1:p.Trp1212Ter | |
| XM_017029784.1:c.2985G>A | XP_016885273.1:p.Trp995Ter | |
| XM_017029785.1:c.2727G>A | XP_016885274.1:p.Trp909Ter | |
| XM_024452438.1:c.3771G>A | XP_024308206.1:p.Trp1257Ter | |
| XM_024452439.1:c.3348G>A | XP_024308207.1:p.Trp1116Ter | |
| XR_002958804.1:n.4243G>A | ||
| NM_001291415.2:c.3873G>A MANE Select | NP_001278344.1:p.Trp1291Ter | |
| NM_001291416.2:c.3738G>A | NP_001278345.1:p.Trp1246Ter | |
| NM_001291417.2:c.3582G>A | NP_001278346.1:p.Trp1194Ter | |
| NM_001291418.2:c.3480G>A | NP_001278347.1:p.Trp1160Ter | |
| NM_001291421.2:c.2829G>A | NP_001278350.1:p.Trp943Ter | |
| NM_021140.4:c.3717G>A | NP_066963.2:p.Trp1239Ter | |
| NR_111960.2:n.4000G>A |