Linked Data
dbSNP Id:
rs148424328
gnomAD v2:
9-88693295-A-G
gnomAD v3:
9-86078380-A-G
gnomAD v4:
9-86078380-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.86078380A>G , CM000671.2:g.86078380A>G | GRCh38 |
| NC_000009.11:g.88693295A>G , CM000671.1:g.88693295A>G | GRCh37 |
| NC_000009.10:g.87883115A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388711.7:c.130-789T>C | ENSP00000373363.3:n.130-789T>C | |
| ENST00000388712.7:c.130-789T>C MANE Select | ENSP00000373364.3:n.130-789T>C | |
| ENST00000466178.1:c.130-789T>C | ENSP00000418155.1:n.130-789T>C | |
| ENST00000470762.6:c.130-789T>C | ENSP00000417504.2:n.130-789T>C | |
| ENST00000472919.1:n.191-841T>C | ||
| ENST00000486130.5:c.130-789T>C | ENSP00000419076.1:n.130-789T>C | |
| NM_016548.3:c.130-789T>C | NP_057632.2:n.130-789T>C | |
| NM_177937.2:c.130-789T>C | NP_808800.1:n.130-789T>C | |
| NM_016548.4:c.130-789T>C MANE Select | NP_057632.2:n.130-789T>C | |
| NM_177937.3:c.130-789T>C | NP_808800.1:n.130-789T>C |