Linked Data
dbSNP Id:
rs10113903
gnomAD v2:
9-33122645-G-C
gnomAD v3:
9-33122647-G-C
gnomAD v4:
9-33122647-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.33122647G>C , CM000671.2:g.33122647G>C | GRCh38 |
| NC_000009.11:g.33122645G>C , CM000671.1:g.33122645G>C | GRCh37 |
| NC_000009.10:g.33112645G>C | NCBI36 |
| NG_008919.1:g.49712C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379731.5:c.649-2041C>G MANE Select | ENSP00000369055.4:n.649-2041C>G | |
| ENST00000379731.4:c.649-2041C>G | ENSP00000369055.4:n.649-2041C>G | |
| ENST00000535206.5:c.648+12542C>G | ENSP00000440341.1:n.648+12542C>G | |
| NM_001497.3:c.649-2041C>G | NP_001488.2:n.649-2041C>G | |
| XM_005251440.3:c.649-2041C>G | XP_005251497.1:n.649-2041C>G | |
| XM_005251440.5:c.649-2041C>G | XP_005251497.1:n.649-2041C>G | |
| NM_001378495.1:c.610-2041C>G | NP_001365424.1:n.610-2041C>G | |
| NM_001378496.1:c.649-2041C>G | NP_001365425.1:n.649-2041C>G | |
| NM_001378497.1:c.648+12542C>G | NP_001365426.1:n.648+12542C>G | |
| NM_001497.4:c.649-2041C>G MANE Select | NP_001488.2:n.649-2041C>G |