Linked Data
dbSNP Id:
rs373089563
gnomAD v2:
9-88693440-G-C
gnomAD v3:
9-86078525-G-C
gnomAD v4:
9-86078525-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.86078525G>C , CM000671.2:g.86078525G>C | GRCh38 |
| NC_000009.11:g.88693440G>C , CM000671.1:g.88693440G>C | GRCh37 |
| NC_000009.10:g.87883260G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388711.7:c.129+667C>G | ENSP00000373363.3:n.129+667C>G | |
| ENST00000388712.7:c.129+667C>G MANE Select | ENSP00000373364.3:n.129+667C>G | |
| ENST00000466178.1:c.129+667C>G | ENSP00000418155.1:n.129+667C>G | |
| ENST00000470762.6:c.129+667C>G | ENSP00000417504.2:n.129+667C>G | |
| ENST00000472919.1:n.190+776C>G | ||
| ENST00000486130.5:c.129+667C>G | ENSP00000419076.1:n.129+667C>G | |
| NM_016548.3:c.129+667C>G | NP_057632.2:n.129+667C>G | |
| NM_177937.2:c.129+667C>G | NP_808800.1:n.129+667C>G | |
| NM_016548.4:c.129+667C>G MANE Select | NP_057632.2:n.129+667C>G | |
| NM_177937.3:c.129+667C>G | NP_808800.1:n.129+667C>G |