Linked Data
dbSNP Id:
rs756450172
ExAC:
10:104263862 C / G
gnomAD v2:
10-104263862-C-G
gnomAD v3:
10-102504105-C-G
gnomAD v4:
10-102504105-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102504105C>G , CM000672.2:g.102504105C>G | GRCh38 |
| NC_000010.10:g.104263862C>G , CM000672.1:g.104263862C>G | GRCh37 |
| NC_000010.9:g.104253852C>G | NCBI36 |
| NG_011901.1:g.3651G>C | |
| NG_021338.1:g.5144C>G , LRG_521:g.5144C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369902.8:c.-48C>G MANE Select | ENSP00000358918.4:n.-48C>G | |
| ENST00000369899.6:c.-48C>G | ENSP00000358915.2:n.-48C>G | |
| ENST00000369902.7:c.-48C>G | ENSP00000358918.3:n.-48C>G | |
| ENST00000423559.2:c.-48C>G | ENSP00000411597.2:n.-48C>G | |
| NM_001178133.1:c.-48C>G | NP_001171604.1:n.-48C>G | |
| NM_016169.3:c.-48C>G , LRG_521t1:c.-48C>G | NP_057253.2:n.-48C>G | |
| XM_011539858.1:c.-48C>G | XP_011538160.1:n.-48C>G | |
| XM_011539859.1:c.-29-19C>G | XP_011538161.1:n.-29-19C>G | |
| XM_011539860.1:c.-48C>G | XP_011538162.1:n.-48C>G | |
| XM_011539863.1:c.8+1119C>G | XP_011538165.1:n.8+1119C>G | |
| XM_011539858.3:c.-48C>G | XP_011538160.1:n.-48C>G | |
| XM_011539860.3:c.-48C>G | XP_011538162.1:n.-48C>G | |
| XM_011539861.3:c.-48C>G | XP_011538163.1:n.-48C>G | |
| XM_011539863.3:c.8+1119C>G | XP_011538165.1:n.8+1119C>G | |
| XM_011539864.3:c.-48C>G | XP_011538166.1:n.-48C>G | |
| NM_001178133.2:c.-48C>G | NP_001171604.1:n.-48C>G | |
| NM_016169.4:c.-48C>G MANE Select | NP_057253.2:n.-48C>G |