Linked Data
dbSNP Id:
rs3846662
ExAC:
5:74651084 A / G
gnomAD v2:
5-74651084-A-G
gnomAD v3:
5-75355259-A-G
gnomAD v4:
5-75355259-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75355259A>G , CM000667.2:g.75355259A>G | GRCh38 |
| NC_000005.9:g.74651084A>G , CM000667.1:g.74651084A>G | GRCh37 |
| NC_000005.8:g.74686840A>G | NCBI36 |
| NG_011449.1:g.23092A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287936.9:c.1722+45A>G MANE Select | ENSP00000287936.4:n.1722+45A>G | |
| ENST00000679456.1:n.2559+45A>G | ||
| ENST00000680160.1:c.1722+45A>G | ENSP00000505315.1:n.1722+45A>G | |
| ENST00000680940.1:c.1722+45A>G | ENSP00000505561.1:n.1722+45A>G | |
| ENST00000681271.1:c.1722+45A>G | ENSP00000505805.1:n.1722+45A>G | |
| ENST00000681410.1:c.1722+45A>G | ENSP00000506232.1:n.1722+45A>G | |
| ENST00000681567.1:c.*2271+45A>G | ENSP00000506708.1:n.*2271+45A>G | |
| ENST00000287936.8:c.1722+45A>G | ENSP00000287936.4:n.1722+45A>G | |
| ENST00000343975.9:c.1564-106A>G | ENSP00000340816.5:n.1564-106A>G | |
| ENST00000508070.1:n.80A>G | ||
| ENST00000511206.5:c.1722+45A>G | ENSP00000426745.1:n.1722+45A>G | |
| NM_000859.2:c.1722+45A>G | NP_000850.1:n.1722+45A>G | |
| NM_001130996.1:c.1564-106A>G | NP_001124468.1:n.1564-106A>G | |
| XM_011543357.1:c.1782+45A>G | XP_011541659.1:n.1782+45A>G | |
| XM_011543358.1:c.1722+45A>G | XP_011541660.1:n.1722+45A>G | |
| XM_011543359.1:c.1624-106A>G | XP_011541661.1:n.1624-106A>G | |
| NM_001364187.1:c.1722+45A>G | NP_001351116.1:n.1722+45A>G | |
| NM_000859.3:c.1722+45A>G MANE Select | NP_000850.1:n.1722+45A>G | |
| NM_001130996.2:c.1564-106A>G | NP_001124468.1:n.1564-106A>G |