Linked Data
dbSNP Id:
rs1448431258
gnomAD v2:
17-6606957-G-A
gnomAD v3:
17-6703638-G-A
gnomAD v4:
17-6703638-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6703638G>A , CM000679.2:g.6703638G>A | GRCh38 |
| NC_000017.10:g.6606957G>A , CM000679.1:g.6606957G>A | GRCh37 |
| NC_000017.9:g.6547681G>A | NCBI36 |
| NG_034220.1:g.14784C>T , LRG_1020:g.14784C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.547+240C>T MANE Select | ENSP00000406220.2:n.547+240C>T | |
| ENST00000293800.10:c.496+240C>T | ENSP00000293800.6:n.496+240C>T | |
| ENST00000381074.8:c.418+240C>T | ENSP00000370464.4:n.418+240C>T | |
| ENST00000433363.6:c.547+240C>T | ENSP00000406220.2:n.547+240C>T | |
| ENST00000572094.1:c.*297+240C>T | ENSP00000461495.1:n.*297+240C>T | |
| ENST00000572352.5:c.436+240C>T | ENSP00000461622.1:n.436+240C>T | |
| ENST00000573648.5:c.547+240C>T | ENSP00000459372.1:n.547+240C>T | |
| ENST00000574824.5:n.1680+240C>T | ||
| NM_001143838.2:c.547+240C>T | NP_001137310.1:n.547+240C>T | |
| NM_001284509.1:c.496+240C>T | NP_001271438.1:n.496+240C>T | |
| NM_001284510.1:c.418+240C>T | NP_001271439.1:n.418+240C>T | |
| NM_177550.4:c.547+240C>T , LRG_1020t1:c.547+240C>T | NP_808218.1:n.547+240C>T | |
| XM_006721504.2:c.436+240C>T | XP_006721567.1:n.436+240C>T | |
| XM_011523795.1:c.547+240C>T | XP_011522097.1:n.547+240C>T | |
| XM_011523795.3:c.547+240C>T | XP_011522097.1:n.547+240C>T | |
| NM_001143838.3:c.547+240C>T | NP_001137310.1:n.547+240C>T | |
| NM_001284509.2:c.496+240C>T | NP_001271438.1:n.496+240C>T | |
| NM_001284510.2:c.418+240C>T | NP_001271439.1:n.418+240C>T | |
| NM_177550.5:c.547+240C>T MANE Select | NP_808218.1:n.547+240C>T |