Linked Data
dbSNP Id:
rs12149746
gnomAD v2:
16-29832873-A-G
gnomAD v3:
16-29821552-A-G
gnomAD v4:
16-29821552-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29821552A>G , CM000678.2:g.29821552A>G | GRCh38 |
| NC_000016.9:g.29832873A>G , CM000678.1:g.29832873A>G | GRCh37 |
| NC_000016.8:g.29740374A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320330.8:c.*1798A>G (PAGR1) MANE Select | ENSP00000326519.6:n.*1798A>G | |
| ENST00000357402.10:c.-36+1042A>G (MVP) MANE Select | ENSP00000349977.5:n.-36+1042A>G | |
| ENST00000357402.9:c.-36+1042A>G (MVP) | ENSP00000349977.5:n.-36+1042A>G | |
| ENST00000395353.5:c.-77+1042A>G (MVP) | ENSP00000378760.1:n.-77+1042A>G | |
| ENST00000562285.1:c.402+1650A>G | ||
| ENST00000562463.5:c.-36+1042A>G (MVP) | ENSP00000457734.1:n.-36+1042A>G | |
| ENST00000563096.1:n.45+1042A>G (MVP) | ||
| ENST00000563558.5:c.-77+1042A>G (MVP) | ENSP00000454825.1:n.-77+1042A>G | |
| ENST00000563915.5:c.-77+1042A>G (MVP) | ENSP00000455819.1:n.-77+1042A>G | |
| ENST00000565164.1:c.-36+179A>G (MVP) | ENSP00000454819.1:n.-36+179A>G | |
| ENST00000565830.5:n.34+1042A>G (MVP) | ||
| ENST00000566066.5:c.-228+1042A>G (MVP) | ENSP00000455186.1:n.-228+1042A>G | |
| ENST00000566859.5:c.-36+1042A>G (MVP) | ENSP00000455741.1:n.-36+1042A>G | |
| ENST00000569887.1:c.-36+1042A>G (MVP) | ENSP00000455532.1:n.-36+1042A>G | |
| ENST00000570234.5:c.-146+161A>G (MVP) | ENSP00000456291.1:n.-146+161A>G | |
| NM_005115.4:c.-36+1042A>G (MVP) | NP_005106.2:n.-36+1042A>G | |
| NM_017458.3:c.-77+1042A>G (MVP) | NP_059447.2:n.-77+1042A>G | |
| NM_024516.3:c.*1798A>G (PAGR1) | NP_078792.1:n.*1798A>G | |
| NM_005115.5:c.-36+1042A>G (MVP) MANE Select | NP_005106.2:n.-36+1042A>G | |
| NM_024516.4:c.*1798A>G (PAGR1) MANE Select | NP_078792.1:n.*1798A>G |