Linked Data
dbSNP Id:
rs1412637233
gnomAD v2:
5-40965055-A-G
gnomAD v3:
5-40964953-A-G
gnomAD v4:
5-40964953-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40964953A>G , CM000667.2:g.40964953A>G | GRCh38 |
| NC_000005.9:g.40965055A>G , CM000667.1:g.40965055A>G | GRCh37 |
| NC_000005.8:g.41000812A>G | NCBI36 |
| NG_011692.1:g.60457A>G , LRG_30:g.60457A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486779.2:n.674+80A>G | ||
| ENST00000696333.1:c.1882+80A>G | ENSP00000512566.1:n.1882+80A>G | |
| ENST00000696441.1:c.1882+80A>G | ENSP00000512631.1:n.1882+80A>G | |
| ENST00000706664.1:n.1996+80A>G | ||
| ENST00000706666.1:n.1958+80A>G | ||
| ENST00000706667.1:n.2772+80A>G | ||
| ENST00000706668.1:n.2610+80A>G | ||
| ENST00000313164.10:c.1882+80A>G MANE Select | ENSP00000322061.9:n.1882+80A>G | |
| ENST00000313164.9:c.1882+80A>G | ENSP00000322061.9:n.1882+80A>G | |
| ENST00000486779.1:n.395+80A>G | ||
| NM_000587.2:c.1882+80A>G , LRG_30t1:c.1882+80A>G | NP_000578.2:n.1882+80A>G | |
| XM_011514122.1:c.1882+80A>G | XP_011512424.1:n.1882+80A>G | |
| NM_000587.3:c.1882+80A>G | NP_000578.2:n.1882+80A>G | |
| NM_000587.4:c.1882+80A>G MANE Select | NP_000578.2:n.1882+80A>G |