Linked Data
dbSNP Id:
rs710448
gnomAD v2:
3-186452885-A-G
gnomAD v3:
3-186735096-A-G
gnomAD v4:
3-186735096-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186735096A>G , CM000665.2:g.186735096A>G | GRCh38 |
| NC_000003.11:g.186452885A>G , CM000665.1:g.186452885A>G | GRCh37 |
| NC_000003.10:g.187935579A>G | NCBI36 |
| NG_016009.1:g.22788A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287611.8:c.930+2422A>G | ENSP00000287611.2:n.930+2422A>G | |
| ENST00000644859.2:c.930+2422A>G MANE Select | ENSP00000493985.1:n.930+2422A>G | |
| ENST00000265023.8:c.930+2422A>G | ENSP00000265023.4:n.930+2422A>G | |
| ENST00000287611.6:c.930+2422A>G | ENSP00000287611.2:n.930+2422A>G | |
| ENST00000447445.1:c.822+2422A>G | ENSP00000396025.1:n.822+2422A>G | |
| NM_000893.3:c.930+2422A>G | NP_000884.1:n.930+2422A>G | |
| NM_001102416.2:c.930+2422A>G | NP_001095886.1:n.930+2422A>G | |
| NM_001166451.1:c.822+2422A>G | NP_001159923.1:n.822+2422A>G | |
| NM_000893.4:c.930+2422A>G | NP_000884.1:n.930+2422A>G | |
| NM_001102416.3:c.930+2422A>G MANE Select | NP_001095886.1:n.930+2422A>G | |
| NM_001166451.2:c.822+2422A>G | NP_001159923.1:n.822+2422A>G |