Linked Data
dbSNP Id:
rs10003447
gnomAD v2:
4-148447379-C-T
gnomAD v3:
4-147526227-C-T
gnomAD v4:
4-147526227-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.147526227C>T , CM000666.2:g.147526227C>T | GRCh38 |
| NC_000004.11:g.148447379C>T , CM000666.1:g.148447379C>T | GRCh37 |
| NC_000004.10:g.148666829C>T | NCBI36 |
| NG_013343.1:g.50311C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324300.10:c.548+6249C>T | ENSP00000315011.5:n.548+6249C>T | |
| ENST00000648866.1:c.-128+6249C>T | ENSP00000496976.1:n.-128+6249C>T | |
| ENST00000651419.1:c.548+6249C>T MANE Select | ENSP00000498969.1:n.548+6249C>T | |
| ENST00000324300.9:c.548+6249C>T | ENSP00000315011.5:n.548+6249C>T | |
| ENST00000358556.8:c.421-9650C>T | ENSP00000351359.4:n.421-9650C>T | |
| ENST00000506066.1:c.421-9650C>T | ENSP00000425281.1:n.421-9650C>T | |
| ENST00000510697.5:c.548+6249C>T | ENSP00000427259.1:n.548+6249C>T | |
| ENST00000511804.5:c.-128+6249C>T | ENSP00000425354.1:n.-128+6249C>T | |
| ENST00000514245.1:n.269-6279C>T | ||
| NM_001166055.1:c.421-9650C>T | NP_001159527.1:n.421-9650C>T | |
| NM_001256283.1:c.-128+6249C>T | NP_001243212.1:n.-128+6249C>T | |
| NM_001957.3:c.548+6249C>T | NP_001948.1:n.548+6249C>T | |
| NR_045958.1:n.1078+6249C>T | ||
| NM_001354797.1:c.549-270C>T | NP_001341726.1:n.549-270C>T | |
| NR_148963.1:n.588+6249C>T | ||
| NR_148964.1:n.588+6249C>T | ||
| NM_001957.4:c.548+6249C>T MANE Select | NP_001948.1:n.548+6249C>T | |
| NM_001354797.2:c.549-270C>T | NP_001341726.1:n.549-270C>T | |
| NR_045958.2:n.898+6249C>T | ||
| NR_148963.2:n.408+6249C>T | ||
| NR_148964.2:n.408+6249C>T | ||
| NM_001166055.2:c.421-9650C>T | NP_001159527.1:n.421-9650C>T |