Linked Data
ClinVar Variation Id:
183368
ClinVar RCV Id:
RCV000172945
dbSNP Id:
rs793888509
PubMed:
PMID:25972376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.45053832G>A , CM000685.2:g.45053832G>A | GRCh38 |
| NC_000023.10:g.44913077G>A , CM000685.1:g.44913077G>A | GRCh37 |
| NC_000023.9:g.44798021G>A | NCBI36 |
| NG_016260.1:g.185655G>A , LRG_616:g.185655G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621147.5:c.658G>A | ENSP00000478793.1:p.Gly220Arg | |
| ENST00000682127.1:n.897G>A | ||
| ENST00000682908.1:c.631G>A | ENSP00000508158.1:n.631G>A | |
| ENST00000683021.1:c.752G>A | ENSP00000507416.1:p.Trp251Ter | |
| ENST00000683425.1:c.*214G>A | ENSP00000507291.1:n.*214G>A | |
| ENST00000684352.1:c.752G>A | ENSP00000508379.1:p.Trp251Ter | |
| ENST00000377967.9:c.752G>A | ENSP00000367203.4:p.Trp251Ter | |
| ENST00000382899.9:c.752G>A | ENSP00000372355.6:p.Trp251Ter | |
| ENST00000536777.6:c.752G>A | ENSP00000437405.3:p.Trp251Ter | |
| ENST00000543216.6:c.752G>A | ENSP00000443078.3:p.Trp251Ter | |
| ENST00000611820.5:c.752G>A MANE Select | ENSP00000483595.2:p.Trp251Ter | |
| ENST00000674541.1:c.*175G>A | ENSP00000501919.1:n.*175G>A | |
| ENST00000674564.1:c.752G>A | ENSP00000502150.1:p.Trp251Ter | |
| ENST00000674586.1:c.809G>A | ENSP00000502660.1:p.Trp270Ter | |
| ENST00000674659.1:c.*175G>A | ENSP00000502255.1:n.*175G>A | |
| ENST00000674739.1:n.1116G>A | ||
| ENST00000674867.1:c.593G>A | ENSP00000502060.1:p.Trp198Ter | |
| ENST00000675157.1:n.596G>A | ||
| ENST00000675182.1:n.636G>A | ||
| ENST00000675440.1:n.907G>A | ||
| ENST00000675514.1:c.752G>A | ENSP00000502759.1:p.Trp251Ter | |
| ENST00000675525.1:n.2853G>A | ||
| ENST00000675577.1:c.752G>A | ENSP00000501855.1:p.Trp251Ter | |
| ENST00000675816.1:n.907G>A | ||
| ENST00000676062.1:c.752G>A | ENSP00000502311.1:p.Trp251Ter | |
| ENST00000676085.1:c.*175G>A | ENSP00000501752.1:n.*175G>A | |
| ENST00000676133.1:c.*321G>A | ENSP00000502586.1:n.*321G>A | |
| ENST00000676343.1:c.752G>A | ENSP00000501761.1:p.Trp251Ter | |
| ENST00000676389.1:n.711G>A | ||
| ENST00000377967.8:c.752G>A | ENSP00000367203.4:p.Trp251Ter | |
| ENST00000382899.8:c.680G>A | ENSP00000372355.5:p.Trp227Ter | |
| ENST00000536777.5:c.680G>A | ENSP00000437405.2:p.Trp227Ter | |
| ENST00000543216.5:c.680G>A | ENSP00000443078.2:p.Trp227Ter | |
| ENST00000611820.4:c.680G>A | ENSP00000483595.1:p.Trp227Ter | |
| ENST00000621147.4:c.658G>A | ENSP00000478793.1:p.Gly220Arg | |
| NM_001291415.1:c.752G>A , LRG_616t1:c.752G>A | NP_001278344.1:p.Trp251Ter | |
| NM_001291416.1:c.752G>A | NP_001278345.1:p.Trp251Ter | |
| NM_001291417.1:c.752G>A | NP_001278346.1:p.Trp251Ter | |
| NM_001291418.1:c.752G>A | NP_001278347.1:p.Trp251Ter | |
| NM_001291421.1:c.-2G>A | NP_001278350.1:n.-2G>A | |
| NM_021140.3:c.752G>A | NP_066963.2:p.Trp251Ter | |
| NR_111960.1:n.1129G>A | ||
| XM_005272656.3:c.752G>A | XP_005272713.1:p.Trp251Ter | |
| XM_005272659.3:c.752G>A | XP_005272716.1:p.Trp251Ter | |
| XM_011543957.1:c.809G>A | XP_011542259.1:p.Trp270Ter | |
| XM_011543958.1:c.752G>A | XP_011542260.1:p.Trp251Ter | |
| XM_011543959.1:c.809G>A | XP_011542261.1:p.Trp270Ter | |
| XM_011543960.1:c.809G>A | XP_011542262.1:p.Trp270Ter | |
| XM_011543961.1:c.809G>A | XP_011542263.1:p.Trp270Ter | |
| XM_011543962.1:c.809G>A | XP_011542264.1:p.Trp270Ter | |
| XM_011543963.1:c.752G>A | XP_011542265.1:p.Trp251Ter | |
| XM_011543964.1:c.752G>A | XP_011542266.1:p.Trp251Ter | |
| XM_011543965.1:c.809G>A | XP_011542267.1:p.Trp270Ter | |
| XM_011543966.1:c.809G>A | XP_011542268.1:p.Trp270Ter | |
| XM_011543967.1:c.809G>A | XP_011542269.1:p.Trp270Ter | |
| XM_011543968.1:c.809G>A | XP_011542270.1:p.Trp270Ter | |
| XM_011543969.1:c.752G>A | XP_011542271.1:p.Trp251Ter | |
| XM_011543970.1:c.752G>A | XP_011542272.1:p.Trp251Ter | |
| XM_011543971.1:c.809G>A | XP_011542273.1:p.Trp270Ter | |
| XM_011543972.1:c.752G>A | XP_011542274.1:p.Trp251Ter | |
| XM_011543973.1:c.809G>A | XP_011542275.1:p.Trp270Ter | |
| XM_011543974.1:c.752G>A | XP_011542276.1:p.Trp251Ter | |
| XM_011543975.1:c.-2G>A | XP_011542277.1:n.-2G>A | |
| XM_011543976.1:c.809G>A | XP_011542278.1:p.Trp270Ter | |
| XR_949018.1:n.1186G>A | ||
| XM_005272656.5:c.752G>A | XP_005272713.1:p.Trp251Ter | |
| XM_005272659.5:c.752G>A | XP_005272716.1:p.Trp251Ter | |
| XM_011543958.3:c.752G>A | XP_011542260.1:p.Trp251Ter | |
| XM_011543963.3:c.752G>A | XP_011542265.1:p.Trp251Ter | |
| XM_011543964.3:c.752G>A | XP_011542266.1:p.Trp251Ter | |
| XM_011543969.3:c.752G>A | XP_011542271.1:p.Trp251Ter | |
| XM_011543970.3:c.752G>A | XP_011542272.1:p.Trp251Ter | |
| XM_011543972.3:c.752G>A | XP_011542274.1:p.Trp251Ter | |
| XM_011543974.2:c.752G>A | XP_011542276.1:p.Trp251Ter | |
| XM_011543975.2:c.-2G>A | XP_011542277.1:n.-2G>A | |
| XM_017029783.2:c.752G>A | XP_016885272.1:p.Trp251Ter | |
| XM_017029784.1:c.-2G>A | XP_016885273.1:n.-2G>A | |
| XM_017029785.1:c.-2G>A | XP_016885274.1:n.-2G>A | |
| XM_024452438.1:c.752G>A | XP_024308206.1:p.Trp251Ter | |
| XM_024452439.1:c.227G>A | XP_024308207.1:p.Trp76Ter | |
| XR_002958804.1:n.1122G>A | ||
| NM_001291415.2:c.752G>A MANE Select | NP_001278344.1:p.Trp251Ter | |
| NM_001291416.2:c.752G>A | NP_001278345.1:p.Trp251Ter | |
| NM_001291417.2:c.752G>A | NP_001278346.1:p.Trp251Ter | |
| NM_001291418.2:c.752G>A | NP_001278347.1:p.Trp251Ter | |
| NM_001291421.2:c.-2G>A | NP_001278350.1:n.-2G>A | |
| NM_021140.4:c.752G>A | NP_066963.2:p.Trp251Ter | |
| NR_111960.2:n.1116G>A |