Linked Data
ClinVar Variation Id:
1169276
dbSNP Id:
rs13157656
ExAC:
5:40964852 A / C
gnomAD v2:
5-40964852-A-C
gnomAD v3:
5-40964750-A-C
gnomAD v4:
5-40964750-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40964750A>C , CM000667.2:g.40964750A>C | GRCh38 |
| NC_000005.9:g.40964852A>C , CM000667.1:g.40964852A>C | GRCh37 |
| NC_000005.8:g.41000609A>C | NCBI36 |
| NG_011692.1:g.60254A>C , LRG_30:g.60254A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000486779.2:n.551A>C | ||
| ENST00000696333.1:c.1759A>C | ENSP00000512566.1:p.Thr587Pro | |
| ENST00000696441.1:c.1759A>C | ENSP00000512631.1:p.Thr587Pro | |
| ENST00000706664.1:n.1873A>C | ||
| ENST00000706666.1:n.1835A>C | ||
| ENST00000706667.1:n.2649A>C | ||
| ENST00000706668.1:n.2487A>C | ||
| ENST00000313164.10:c.1759A>C MANE Select | ENSP00000322061.9:p.Thr587Pro | |
| ENST00000313164.9:c.1759A>C | ENSP00000322061.9:p.Thr587Pro | |
| ENST00000486779.1:n.272A>C | ||
| NM_000587.2:c.1759A>C , LRG_30t1:c.1759A>C | NP_000578.2:p.Thr587Pro | |
| XM_011514122.1:c.1759A>C | XP_011512424.1:p.Thr587Pro | |
| NM_000587.3:c.1759A>C | NP_000578.2:p.Thr587Pro | |
| NM_000587.4:c.1759A>C MANE Select | NP_000578.2:p.Thr587Pro |