Linked Data
dbSNP Id:
rs13078807
gnomAD v2:
3-85884150-A-G
gnomAD v3:
3-85835000-A-G
gnomAD v4:
3-85835000-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.85835000A>G , CM000665.2:g.85835000A>G | GRCh38 |
| NC_000003.11:g.85884150A>G , CM000665.1:g.85884150A>G | GRCh37 |
| NC_000003.10:g.85966840A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383699.8:c.238+32804A>G MANE Select | ENSP00000373200.3:n.238+32804A>G | |
| ENST00000383699.7:c.238+32804A>G | ENSP00000373200.3:n.238+32804A>G | |
| ENST00000405615.2:c.217+32804A>G | ENSP00000384193.2:n.217+32804A>G | |
| ENST00000407528.6:c.211+32804A>G | ENSP00000384575.2:n.211+32804A>G | |
| NM_001167674.1:c.211+32804A>G | NP_001161146.1:n.211+32804A>G | |
| NM_001167675.1:c.238+32804A>G | NP_001161147.1:n.238+32804A>G | |
| NM_001256502.1:c.-114+32804A>G | NP_001243431.1:n.-114+32804A>G | |
| NM_001256503.1:c.-113-48291A>G | NP_001243432.1:n.-113-48291A>G | |
| NM_001256504.1:c.-114+32804A>G | NP_001243433.1:n.-114+32804A>G | |
| NM_001256505.1:c.-114+32804A>G | NP_001243434.1:n.-114+32804A>G | |
| NM_153184.3:c.217+32804A>G | NP_694854.2:n.217+32804A>G | |
| XM_006713081.2:c.211+32804A>G | XP_006713144.1:n.211+32804A>G | |
| XM_006713082.2:c.211+32804A>G | XP_006713145.1:n.211+32804A>G | |
| XM_006713081.4:c.211+32804A>G | XP_006713144.1:n.211+32804A>G | |
| XM_006713082.3:c.211+32804A>G | XP_006713145.1:n.211+32804A>G | |
| XM_017006062.2:c.253+32804A>G | XP_016861551.1:n.253+32804A>G | |
| XM_017006063.2:c.217+32804A>G | XP_016861552.1:n.217+32804A>G | |
| NM_001167674.2:c.211+32804A>G | NP_001161146.1:n.211+32804A>G | |
| NM_001167675.2:c.238+32804A>G MANE Select | NP_001161147.1:n.238+32804A>G | |
| NM_001256502.2:c.-114+32804A>G | NP_001243431.1:n.-114+32804A>G | |
| NM_001256503.2:c.-113-48291A>G | NP_001243432.1:n.-113-48291A>G | |
| NM_001256504.2:c.-114+32804A>G | NP_001243433.1:n.-114+32804A>G | |
| NM_001256505.2:c.-114+32804A>G | NP_001243434.1:n.-114+32804A>G | |
| NM_001375960.1:c.238+32804A>G | NP_001362889.1:n.238+32804A>G | |
| NM_001375961.1:c.190+32804A>G | NP_001362890.1:n.190+32804A>G | |
| NM_001375964.1:c.238+32804A>G | NP_001362893.1:n.238+32804A>G | |
| NM_001375967.1:c.89-48291A>G | NP_001362896.1:n.89-48291A>G | |
| NM_001375968.1:c.238+32804A>G | NP_001362897.1:n.238+32804A>G | |
| NM_153184.4:c.217+32804A>G | NP_694854.2:n.217+32804A>G | |
| NM_001381963.1:c.211+32804A>G | NP_001368892.1:n.211+32804A>G | |
| NM_001381964.1:c.211+32804A>G | NP_001368893.1:n.211+32804A>G |