Linked Data
ClinVar Variation Id:
996891
ClinVar RCV Id:
RCV001291708
dbSNP Id:
rs760601613
ExAC:
X:44732862 A / C
gnomAD v2:
X-44732862-A-C
gnomAD v3:
X-44873616-A-C
gnomAD v4:
X-44873616-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.44873616A>C , CM000685.2:g.44873616A>C | GRCh38 |
| NC_000023.10:g.44732862A>C , CM000685.1:g.44732862A>C | GRCh37 |
| NC_000023.9:g.44617806A>C | NCBI36 |
| NG_016260.1:g.5440A>C , LRG_616:g.5440A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621147.5:c.65A>C | ENSP00000478793.1:p.Glu22Ala | |
| ENST00000682908.1:c.65A>C | ENSP00000508158.1:p.Glu22Ala | |
| ENST00000683021.1:c.65A>C | ENSP00000507416.1:p.Glu22Ala | |
| ENST00000683425.1:c.65A>C | ENSP00000507291.1:p.Glu22Ala | |
| ENST00000684352.1:c.65A>C | ENSP00000508379.1:p.Glu22Ala | |
| ENST00000377967.9:c.65A>C | ENSP00000367203.4:p.Glu22Ala | |
| ENST00000382899.9:c.65A>C | ENSP00000372355.6:p.Glu22Ala | |
| ENST00000536777.6:c.65A>C | ENSP00000437405.3:p.Glu22Ala | |
| ENST00000543216.6:c.65A>C | ENSP00000443078.3:p.Glu22Ala | |
| ENST00000611820.5:c.65A>C MANE Select | ENSP00000483595.2:p.Glu22Ala | |
| ENST00000674541.1:c.65A>C | ENSP00000501919.1:p.Glu22Ala | |
| ENST00000674564.1:c.65A>C | ENSP00000502150.1:p.Glu22Ala | |
| ENST00000674586.1:c.65A>C | ENSP00000502660.1:p.Glu22Ala | |
| ENST00000674659.1:c.65A>C | ENSP00000502255.1:p.Glu22Ala | |
| ENST00000674739.1:n.429A>C | ||
| ENST00000674867.1:c.65A>C | ENSP00000502060.1:p.Glu22Ala | |
| ENST00000675440.1:n.220A>C | ||
| ENST00000675514.1:c.65A>C | ENSP00000502759.1:p.Glu22Ala | |
| ENST00000675577.1:c.65A>C | ENSP00000501855.1:p.Glu22Ala | |
| ENST00000675816.1:n.220A>C | ||
| ENST00000676062.1:c.65A>C | ENSP00000502311.1:p.Glu22Ala | |
| ENST00000676085.1:c.65A>C | ENSP00000501752.1:p.Glu22Ala | |
| ENST00000676133.1:c.65A>C | ENSP00000502586.1:p.Glu22Ala | |
| ENST00000676343.1:c.65A>C | ENSP00000501761.1:p.Glu22Ala | |
| ENST00000377967.8:c.65A>C | ENSP00000367203.4:p.Glu22Ala | |
| ENST00000382899.8:c.-8A>C | ENSP00000372355.5:n.-8A>C | |
| ENST00000536777.5:c.-8A>C | ENSP00000437405.2:n.-8A>C | |
| ENST00000543216.5:c.-8A>C | ENSP00000443078.2:n.-8A>C | |
| ENST00000611820.4:c.-8A>C | ENSP00000483595.1:n.-8A>C | |
| ENST00000621147.4:c.65A>C | ENSP00000478793.1:p.Glu22Ala | |
| NM_001291415.1:c.65A>C , LRG_616t1:c.65A>C | NP_001278344.1:p.Glu22Ala | |
| NM_001291416.1:c.65A>C | NP_001278345.1:p.Glu22Ala | |
| NM_001291417.1:c.65A>C | NP_001278346.1:p.Glu22Ala | |
| NM_001291418.1:c.65A>C | NP_001278347.1:p.Glu22Ala | |
| NM_001291421.1:c.-568A>C | NP_001278350.1:n.-568A>C | |
| NM_021140.3:c.65A>C | NP_066963.2:p.Glu22Ala | |
| NR_111960.1:n.442A>C | ||
| XM_005272656.3:c.65A>C | XP_005272713.1:p.Glu22Ala | |
| XM_005272659.3:c.65A>C | XP_005272716.1:p.Glu22Ala | |
| XM_011543957.1:c.65A>C | XP_011542259.1:p.Glu22Ala | |
| XM_011543958.1:c.65A>C | XP_011542260.1:p.Glu22Ala | |
| XM_011543959.1:c.65A>C | XP_011542261.1:p.Glu22Ala | |
| XM_011543960.1:c.65A>C | XP_011542262.1:p.Glu22Ala | |
| XM_011543961.1:c.65A>C | XP_011542263.1:p.Glu22Ala | |
| XM_011543962.1:c.65A>C | XP_011542264.1:p.Glu22Ala | |
| XM_011543963.1:c.65A>C | XP_011542265.1:p.Glu22Ala | |
| XM_011543964.1:c.65A>C | XP_011542266.1:p.Glu22Ala | |
| XM_011543965.1:c.65A>C | XP_011542267.1:p.Glu22Ala | |
| XM_011543966.1:c.65A>C | XP_011542268.1:p.Glu22Ala | |
| XM_011543967.1:c.65A>C | XP_011542269.1:p.Glu22Ala | |
| XM_011543968.1:c.65A>C | XP_011542270.1:p.Glu22Ala | |
| XM_011543969.1:c.65A>C | XP_011542271.1:p.Glu22Ala | |
| XM_011543970.1:c.65A>C | XP_011542272.1:p.Glu22Ala | |
| XM_011543971.1:c.65A>C | XP_011542273.1:p.Glu22Ala | |
| XM_011543972.1:c.65A>C | XP_011542274.1:p.Glu22Ala | |
| XM_011543973.1:c.65A>C | XP_011542275.1:p.Glu22Ala | |
| XM_011543974.1:c.65A>C | XP_011542276.1:p.Glu22Ala | |
| XM_011543976.1:c.65A>C | XP_011542278.1:p.Glu22Ala | |
| XR_949018.1:n.442A>C | ||
| XM_005272656.5:c.65A>C | XP_005272713.1:p.Glu22Ala | |
| XM_005272659.5:c.65A>C | XP_005272716.1:p.Glu22Ala | |
| XM_011543958.3:c.65A>C | XP_011542260.1:p.Glu22Ala | |
| XM_011543963.3:c.65A>C | XP_011542265.1:p.Glu22Ala | |
| XM_011543964.3:c.65A>C | XP_011542266.1:p.Glu22Ala | |
| XM_011543969.3:c.65A>C | XP_011542271.1:p.Glu22Ala | |
| XM_011543970.3:c.65A>C | XP_011542272.1:p.Glu22Ala | |
| XM_011543972.3:c.65A>C | XP_011542274.1:p.Glu22Ala | |
| XM_011543974.2:c.65A>C | XP_011542276.1:p.Glu22Ala | |
| XM_017029783.2:c.65A>C | XP_016885272.1:p.Glu22Ala | |
| XM_017029784.1:c.-568A>C | XP_016885273.1:n.-568A>C | |
| XM_017029785.1:c.-568A>C | XP_016885274.1:n.-568A>C | |
| XM_024452438.1:c.65A>C | XP_024308206.1:p.Glu22Ala | |
| XR_002958804.1:n.435A>C | ||
| NM_001291415.2:c.65A>C MANE Select | NP_001278344.1:p.Glu22Ala | |
| NM_001291416.2:c.65A>C | NP_001278345.1:p.Glu22Ala | |
| NM_001291417.2:c.65A>C | NP_001278346.1:p.Glu22Ala | |
| NM_001291418.2:c.65A>C | NP_001278347.1:p.Glu22Ala | |
| NM_001291421.2:c.-568A>C | NP_001278350.1:n.-568A>C | |
| NM_021140.4:c.65A>C | NP_066963.2:p.Glu22Ala | |
| NR_111960.2:n.429A>C |