Linked Data
dbSNP Id:
rs748986423
ExAC:
3:49162792 G / C
gnomAD v2:
3-49162792-G-C
gnomAD v4:
3-49125359-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125359G>C , CM000665.2:g.49125359G>C | GRCh38 |
| NC_000003.11:g.49162792G>C , CM000665.1:g.49162792G>C | GRCh37 |
| NC_000003.10:g.49137796G>C | NCBI36 |
| NG_008094.1:g.12808C>G | |
| NG_054716.1:g.580C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2614C>G MANE Select | ENSP00000307156.4:p.Pro872Ala | |
| ENST00000305544.8:c.2614C>G | ENSP00000307156.4:p.Pro872Ala | |
| ENST00000418109.5:c.2614C>G | ENSP00000388325.1:p.Pro872Ala | |
| ENST00000462930.5:n.21C>G | ||
| ENST00000464891.5:n.363C>G | ||
| ENST00000477701.1:n.487C>G | ||
| ENST00000483057.1:n.214C>G | ||
| ENST00000486298.5:n.426-190C>G | ||
| NM_002292.3:c.2614C>G | NP_002283.3:p.Pro872Ala | |
| XM_005265127.3:c.2614C>G | XP_005265184.1:p.Pro872Ala | |
| XM_005265127.4:c.2614C>G | XP_005265184.1:p.Pro872Ala | |
| NM_002292.4:c.2614C>G MANE Select | NP_002283.3:p.Pro872Ala |