Linked Data
dbSNP Id:
rs1042012316
gnomAD v2:
15-48426412-C-G
gnomAD v3:
15-48134215-C-G
gnomAD v4:
15-48134215-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48134215C>G , CM000677.2:g.48134215C>G | GRCh38 |
| NC_000015.9:g.48426412C>G , CM000677.1:g.48426412C>G | GRCh37 |
| NC_000015.8:g.46213704C>G | NCBI36 |
| NG_011500.1:g.18244C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341459.8:c.302-43C>G MANE Select | ENSP00000341550.3:n.302-43C>G | |
| ENST00000341459.7:c.302-43C>G | ENSP00000341550.3:n.302-43C>G | |
| ENST00000449382.2:c.122-43C>G | ENSP00000389966.2:n.122-43C>G | |
| ENST00000463289.1:n.62-43C>G | ||
| NM_205850.2:c.302-43C>G | NP_995322.1:n.302-43C>G | |
| XM_011521458.1:c.302-43C>G | XP_011519760.1:n.302-43C>G | |
| XM_017022079.1:c.-38-43C>G | XP_016877568.1:n.-38-43C>G | |
| XM_017022080.1:c.-38-43C>G | XP_016877569.1:n.-38-43C>G | |
| XM_024449901.1:c.-38-43C>G | XP_024305669.1:n.-38-43C>G | |
| NM_205850.3:c.302-43C>G MANE Select | NP_995322.1:n.302-43C>G |