Linked Data
dbSNP Id:
rs1292949225
gnomAD v2:
14-65234309-G-C
gnomAD v3:
14-64767591-G-C
gnomAD v4:
14-64767591-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64767591G>C , CM000676.2:g.64767591G>C | GRCh38 |
| NC_000014.8:g.65234309G>C , CM000676.1:g.65234309G>C | GRCh37 |
| NC_000014.7:g.64304062G>C | NCBI36 |
| NG_016202.1:g.60558C>G | |
| NG_016202.2:g.117302C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389720.4:c.6219+72C>G | ENSP00000374370.4:n.6219+72C>G | |
| ENST00000644917.1:c.6219+72C>G MANE Select | ENSP00000495909.1:n.6219+72C>G | |
| ENST00000389720.3:c.6219+72C>G | ENSP00000374370.3:n.6219+72C>G | |
| ENST00000389721.9:c.6219+72C>G | ENSP00000374371.5:n.6219+72C>G | |
| ENST00000389722.7:c.6219+72C>G | ENSP00000374372.3:n.6219+72C>G | |
| ENST00000542694.2:n.551+72C>G | ||
| ENST00000553938.5:c.2214+72C>G | ENSP00000451324.1:n.2214+72C>G | |
| ENST00000556626.5:c.6219+72C>G | ENSP00000451752.1:n.6219+72C>G | |
| NM_000347.5:c.6219+72C>G | NP_000338.3:n.6219+72C>G | |
| NM_001024858.2:c.6219+72C>G | NP_001020029.1:n.6219+72C>G | |
| XM_005268023.3:c.6219+72C>G | XP_005268080.1:n.6219+72C>G | |
| NM_001024858.3:c.6219+72C>G | NP_001020029.1:n.6219+72C>G | |
| NM_001355436.2:c.6219+72C>G MANE Select | NP_001342365.1:n.6219+72C>G | |
| NM_001355437.2:c.6219+72C>G | NP_001342366.1:n.6219+72C>G | |
| XM_017021612.2:c.6219+72C>G | XP_016877101.1:n.6219+72C>G | |
| XM_024449699.1:c.6219+72C>G | XP_024305467.1:n.6219+72C>G | |
| NM_001024858.4:c.6219+72C>G | NP_001020029.1:n.6219+72C>G |