Linked Data
dbSNP Id:
rs765792198
ExAC:
3:49162668 T / C
gnomAD v2:
3-49162668-T-C
gnomAD v4:
3-49125235-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125235T>C , CM000665.2:g.49125235T>C | GRCh38 |
| NC_000003.11:g.49162668T>C , CM000665.1:g.49162668T>C | GRCh37 |
| NC_000003.10:g.49137672T>C | NCBI36 |
| NG_008094.1:g.12932A>G | |
| NG_054716.1:g.704A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2720+18A>G MANE Select | ENSP00000307156.4:n.2720+18A>G | |
| ENST00000305544.8:c.2720+18A>G | ENSP00000307156.4:n.2720+18A>G | |
| ENST00000418109.5:c.2720+18A>G | ENSP00000388325.1:n.2720+18A>G | |
| ENST00000462930.5:n.127+18A>G | ||
| ENST00000464891.5:n.453+34A>G | ||
| ENST00000483057.1:n.320+18A>G | ||
| ENST00000486298.5:n.426-66A>G | ||
| NM_002292.3:c.2720+18A>G | NP_002283.3:n.2720+18A>G | |
| XM_005265127.3:c.2720+18A>G | XP_005265184.1:n.2720+18A>G | |
| XM_005265127.4:c.2720+18A>G | XP_005265184.1:n.2720+18A>G | |
| NM_002292.4:c.2720+18A>G MANE Select | NP_002283.3:n.2720+18A>G |