Linked Data
dbSNP Id:
rs761787675
ExAC:
3:49162451 C / G
gnomAD v2:
3-49162451-C-G
gnomAD v4:
3-49125018-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125018C>G , CM000665.2:g.49125018C>G | GRCh38 |
| NC_000003.11:g.49162451C>G , CM000665.1:g.49162451C>G | GRCh37 |
| NC_000003.10:g.49137455C>G | NCBI36 |
| NG_008094.1:g.13149G>C | |
| NG_054716.1:g.921G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2872G>C MANE Select | ENSP00000307156.4:p.Ala958Pro | |
| ENST00000305544.8:c.2872G>C | ENSP00000307156.4:p.Ala958Pro | |
| ENST00000418109.5:c.2872G>C | ENSP00000388325.1:p.Ala958Pro | |
| ENST00000462930.5:n.279G>C | ||
| ENST00000464891.5:n.605G>C | ||
| ENST00000483057.1:n.472G>C | ||
| ENST00000486298.5:n.577G>C | ||
| ENST00000542580.1:n.187G>C | ||
| NM_002292.3:c.2872G>C | NP_002283.3:p.Ala958Pro | |
| XM_005265127.3:c.2872G>C | XP_005265184.1:p.Ala958Pro | |
| XM_005265127.4:c.2872G>C | XP_005265184.1:p.Ala958Pro | |
| NM_002292.4:c.2872G>C MANE Select | NP_002283.3:p.Ala958Pro |