Linked Data
ClinVar Variation Id:
1917306
ClinVar RCV Id:
RCV002598165
dbSNP Id:
rs749663981
ExAC:
5:40964984 C / T
gnomAD v2:
5-40964984-C-T
gnomAD v3:
5-40964882-C-T
gnomAD v4:
5-40964882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40964882C>T , CM000667.2:g.40964882C>T | GRCh38 |
| NC_000005.9:g.40964984C>T , CM000667.1:g.40964984C>T | GRCh37 |
| NC_000005.8:g.41000741C>T | NCBI36 |
| NG_011692.1:g.60386C>T , LRG_30:g.60386C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486779.2:n.674+9C>T | ||
| ENST00000696333.1:c.1882+9C>T | ENSP00000512566.1:n.1882+9C>T | |
| ENST00000696441.1:c.1882+9C>T | ENSP00000512631.1:n.1882+9C>T | |
| ENST00000706664.1:n.1996+9C>T | ||
| ENST00000706666.1:n.1958+9C>T | ||
| ENST00000706667.1:n.2772+9C>T | ||
| ENST00000706668.1:n.2610+9C>T | ||
| ENST00000313164.10:c.1882+9C>T MANE Select | ENSP00000322061.9:n.1882+9C>T | |
| ENST00000313164.9:c.1882+9C>T | ENSP00000322061.9:n.1882+9C>T | |
| ENST00000486779.1:n.395+9C>T | ||
| NM_000587.2:c.1882+9C>T , LRG_30t1:c.1882+9C>T | NP_000578.2:n.1882+9C>T | |
| XM_011514122.1:c.1882+9C>T | XP_011512424.1:n.1882+9C>T | |
| NM_000587.3:c.1882+9C>T | NP_000578.2:n.1882+9C>T | |
| NM_000587.4:c.1882+9C>T MANE Select | NP_000578.2:n.1882+9C>T |