Linked Data
dbSNP Id:
rs1362866173
gnomAD v2:
11-66009408-C-G
gnomAD v3:
11-66241937-C-G
gnomAD v4:
11-66241937-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66241937C>G , CM000673.2:g.66241937C>G | GRCh38 |
| NC_000011.9:g.66009408C>G , CM000673.1:g.66009408C>G | GRCh37 |
| NC_000011.8:g.65765984C>G | NCBI36 |
| NG_033900.1:g.176585C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.2656+284C>G MANE Select | ENSP00000316454.4:n.2656+284C>G | |
| ENST00000320580.8:c.2656+284C>G | ENSP00000316454.4:n.2656+284C>G | |
| ENST00000524815.5:c.40+284C>G | ENSP00000433991.1:n.40+284C>G | |
| ENST00000529677.1:c.206+284C>G | ||
| ENST00000529757.5:c.1264+284C>G | ENSP00000432858.1:n.1264+284C>G | |
| ENST00000531597.1:c.40+284C>G | ENSP00000434012.1:n.40+284C>G | |
| NM_018026.3:c.2656+284C>G | NP_060496.2:n.2656+284C>G | |
| XM_011545162.1:c.2335+284C>G | XP_011543464.1:n.2335+284C>G | |
| XM_011545163.1:c.2326+284C>G | XP_011543465.1:n.2326+284C>G | |
| XM_011545164.1:c.2317+284C>G | XP_011543466.1:n.2317+284C>G | |
| XM_011545164.2:c.2317+284C>G | XP_011543466.1:n.2317+284C>G | |
| NM_018026.4:c.2656+284C>G MANE Select | NP_060496.2:n.2656+284C>G |