Linked Data
ClinVar Variation Id:
133758
ClinVar RCV Id:
RCV000120402
RCV000131003
RCV000204453
RCV000409042
RCV000411479
RCV000589005
RCV000989978
RCV001535623
RCV003149828
dbSNP Id:
rs28997573
ExAC:
17:59760963 G / T
gnomAD v2:
17-59760963-G-T
gnomAD v3:
17-61683602-G-T
gnomAD v4:
17-61683602-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683602G>T , CM000679.2:g.61683602G>T | GRCh38 |
| NC_000017.10:g.59760963G>T , CM000679.1:g.59760963G>T | GRCh37 |
| NC_000017.9:g.57115745G>T | NCBI36 |
| NG_007409.2:g.184958C>A , LRG_300:g.184958C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2184C>A | ||
| ENST00000682453.1:c.3444C>A | ENSP00000506943.1:p.Asp1148Glu | |
| ENST00000682477.1:c.*2870C>A | ENSP00000507075.1:n.*2870C>A | |
| ENST00000682589.1:n.9321C>A | ||
| ENST00000682755.1:c.3222C>A | ENSP00000507660.1:p.Asp1074Glu | |
| ENST00000682989.1:c.*535C>A | ENSP00000507786.1:n.*535C>A | |
| ENST00000683039.1:c.3444C>A | ENSP00000508303.1:p.Asp1148Glu | |
| ENST00000683235.1:c.*859C>A | ENSP00000507646.1:n.*859C>A | |
| ENST00000683535.1:n.1574C>A | ||
| ENST00000684584.1:c.2607C>A | ENSP00000508044.1:p.Asp869Glu | |
| ENST00000684626.1:n.1690C>A | ||
| ENST00000684769.1:c.1634C>A | ENSP00000507691.1:n.1634C>A | |
| ENST00000259008.7:c.3444C>A MANE Select | ENSP00000259008.2:p.Asp1148Glu | |
| ENST00000259008.6:c.3444C>A | ENSP00000259008.2:p.Asp1148Glu | |
| NM_032043.2:c.3444C>A , LRG_300t1:c.3444C>A | NP_114432.2:p.Asp1148Glu | |
| XM_011525332.1:c.3504C>A | XP_011523634.1:p.Asp1168Glu | |
| XM_011525333.1:c.3504C>A | XP_011523635.1:p.Asp1168Glu | |
| XM_011525334.1:c.3504C>A | XP_011523636.1:p.Asp1168Glu | |
| XM_011525335.1:c.3444C>A | XP_011523637.1:p.Asp1148Glu | |
| XM_011525336.1:c.3384C>A | XP_011523638.1:p.Asp1128Glu | |
| XM_011525337.1:c.3303C>A | XP_011523639.1:p.Asp1101Glu | |
| XM_011525338.1:c.3021C>A | XP_011523640.1:p.Asp1007Glu | |
| XM_011525332.3:c.3504C>A | XP_011523634.1:p.Asp1168Glu | |
| XM_011525333.3:c.3504C>A | XP_011523635.1:p.Asp1168Glu | |
| XM_011525334.2:c.3504C>A | XP_011523636.1:p.Asp1168Glu | |
| XM_011525335.3:c.3444C>A | XP_011523637.1:p.Asp1148Glu | |
| XM_011525336.2:c.3384C>A | XP_011523638.1:p.Asp1128Glu | |
| XM_011525337.2:c.3303C>A | XP_011523639.1:p.Asp1101Glu | |
| XM_011525338.2:c.3021C>A | XP_011523640.1:p.Asp1007Glu | |
| XM_017025200.1:c.2961C>A | XP_016880689.1:p.Asp987Glu | |
| XM_017025201.1:c.2961C>A | XP_016880690.1:p.Asp987Glu | |
| XM_017025202.1:c.1590C>A | XP_016880691.1:p.Asp530Glu | |
| XM_017025203.1:c.1590C>A | XP_016880692.1:p.Asp530Glu | |
| NM_032043.3:c.3444C>A MANE Select | NP_114432.2:p.Asp1148Glu |