Linked Data
ClinVar Variation Id:
12126
dbSNP Id:
rs121964918
ExAC:
4:110662246 C / T
gnomAD v2:
4-110662246-C-T
gnomAD v3:
4-109741090-C-T
gnomAD v4:
4-109741090-C-T
PubMed:
PMID:16621965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109741090C>T , CM000666.2:g.109741090C>T | GRCh38 |
| NC_000004.11:g.110662246C>T , CM000666.1:g.110662246C>T | GRCh37 |
| NC_000004.10:g.110881695C>T | NCBI36 |
| NG_007569.1:g.65896G>A , LRG_48:g.65896G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695844.1:n.1713+1401G>A | ||
| ENST00000695845.1:n.1712+1401G>A | ||
| ENST00000695846.1:n.1579G>A | ||
| ENST00000394634.7:c.1555G>A MANE Select | ENSP00000378130.2:p.Asp519Asn | |
| ENST00000394635.8:c.1579G>A | ENSP00000378131.3:p.Asp527Asn | |
| ENST00000645635.1:c.1534+1401G>A | ENSP00000493607.1:n.1534+1401G>A | |
| ENST00000394634.6:c.1555G>A | ENSP00000378130.2:p.Asp519Asn | |
| ENST00000394635.7:c.1579G>A | ENSP00000378131.3:p.Asp527Asn | |
| ENST00000504853.3:n.1972G>A | ||
| ENST00000512148.5:c.1534G>A | ENSP00000427438.1:p.Asp512Asn | |
| ENST00000618244.4:c.1045-285G>A | ENSP00000483416.1:n.1045-285G>A | |
| NM_000204.3:c.1555G>A , LRG_48t1:c.1555G>A | NP_000195.2:p.Asp519Asn | |
| XM_005262975.1:c.1579G>A | XP_005263032.1:p.Asp527Asn | |
| XM_005262976.1:c.1534G>A | XP_005263033.1:p.Asp512Asn | |
| XM_006714209.1:c.1576G>A | XP_006714272.1:p.Asp526Asn | |
| XM_011531920.1:c.1558+1401G>A | XP_011530222.1:n.1558+1401G>A | |
| NM_000204.4:c.1555G>A | NP_000195.2:p.Asp519Asn | |
| NM_001318057.1:c.1579G>A | NP_001304986.1:p.Asp527Asn | |
| NM_001331035.1:c.1534G>A | NP_001317964.1:p.Asp512Asn | |
| XM_011531920.2:c.1558+1401G>A | XP_011530222.1:n.1558+1401G>A | |
| XM_017008164.2:c.1534+1401G>A | XP_016863653.1:n.1534+1401G>A | |
| XM_017008165.2:c.1513+1401G>A | XP_016863654.1:n.1513+1401G>A | |
| XM_017008166.2:c.1534+1401G>A | XP_016863655.1:n.1534+1401G>A | |
| NM_001318057.2:c.1579G>A | NP_001304986.2:p.Asp527Asn | |
| NM_001331035.2:c.1534G>A | NP_001317964.1:p.Asp512Asn | |
| NM_001375278.1:c.1558+1401G>A | NP_001362207.1:n.1558+1401G>A | |
| NM_001375279.1:c.1534+1401G>A | NP_001362208.1:n.1534+1401G>A | |
| NM_001375280.1:c.1513+1401G>A | NP_001362209.1:n.1513+1401G>A | |
| NM_001375281.1:c.1534+1401G>A | NP_001362210.1:n.1534+1401G>A | |
| NM_001375282.1:c.1513+1401G>A | NP_001362211.1:n.1513+1401G>A | |
| NM_001375283.1:c.1498G>A | NP_001362212.1:p.Asp500Asn | |
| NM_001375284.1:c.946G>A | NP_001362213.1:p.Asp316Asn | |
| NR_164671.1:n.1302G>A | ||
| NR_164672.1:n.1605G>A | ||
| NR_164673.1:n.1579G>A | ||
| NM_000204.5:c.1555G>A MANE Select | NP_000195.3:p.Asp519Asn |