Linked Data
dbSNP Id:
rs766452964
gnomAD v2:
13-29233386-C-T
gnomAD v3:
13-28659249-C-T
gnomAD v4:
13-28659249-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28659249C>T , CM000675.2:g.28659249C>T | GRCh38 |
| NC_000013.10:g.29233386C>T , CM000675.1:g.29233386C>T | GRCh37 |
| NC_000013.9:g.28131386C>T | NCBI36 |
| NG_027550.1:g.5246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697661.1:c.-246+62C>T | ENSP00000513386.1:n.-246+62C>T | |
| ENST00000697662.1:c.-282+62C>T | ENSP00000513387.1:n.-282+62C>T | |
| ENST00000697716.1:c.-83+62C>T | ENSP00000513414.1:n.-83+62C>T | |
| ENST00000697717.1:c.3+62C>T | ENSP00000513415.1:n.3+62C>T | |
| ENST00000697718.1:c.3+62C>T | ENSP00000513416.1:n.3+62C>T | |
| ENST00000380842.5:c.3+62C>T MANE Select | ENSP00000370222.4:n.3+62C>T | |
| ENST00000380842.4:c.3+62C>T | ENSP00000370222.4:n.3+62C>T | |
| ENST00000460403.1:n.84+62C>T | ||
| NM_015932.5:c.3+62C>T | NP_057016.1:n.3+62C>T | |
| XR_941802.1:n.55C>T | ||
| NM_015932.6:c.3+62C>T MANE Select | NP_057016.1:n.3+62C>T |