Linked Data
dbSNP Id:
rs1038087745
gnomAD v2:
11-66009279-C-T
gnomAD v3:
11-66241808-C-T
gnomAD v4:
11-66241808-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66241808C>T , CM000673.2:g.66241808C>T | GRCh38 |
| NC_000011.9:g.66009279C>T , CM000673.1:g.66009279C>T | GRCh37 |
| NC_000011.8:g.65765855C>T | NCBI36 |
| NG_033900.1:g.176456C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.2656+155C>T MANE Select | ENSP00000316454.4:n.2656+155C>T | |
| ENST00000320580.8:c.2656+155C>T | ENSP00000316454.4:n.2656+155C>T | |
| ENST00000524815.5:c.40+155C>T | ENSP00000433991.1:n.40+155C>T | |
| ENST00000529677.1:c.206+155C>T | ||
| ENST00000529757.5:c.1264+155C>T | ENSP00000432858.1:n.1264+155C>T | |
| ENST00000531597.1:c.40+155C>T | ENSP00000434012.1:n.40+155C>T | |
| NM_018026.3:c.2656+155C>T | NP_060496.2:n.2656+155C>T | |
| XM_011545162.1:c.2335+155C>T | XP_011543464.1:n.2335+155C>T | |
| XM_011545163.1:c.2326+155C>T | XP_011543465.1:n.2326+155C>T | |
| XM_011545164.1:c.2317+155C>T | XP_011543466.1:n.2317+155C>T | |
| XM_011545164.2:c.2317+155C>T | XP_011543466.1:n.2317+155C>T | |
| NM_018026.4:c.2656+155C>T MANE Select | NP_060496.2:n.2656+155C>T |