Linked Data
ClinVar Variation Id:
1429698
ClinVar RCV Id:
RCV001950149
dbSNP Id:
rs753524295
ExAC:
3:49160689 C / G
gnomAD v2:
3-49160689-C-G
gnomAD v3:
3-49123256-C-G
gnomAD v4:
3-49123256-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123256C>G , CM000665.2:g.49123256C>G | GRCh38 |
| NC_000003.11:g.49160689C>G , CM000665.1:g.49160689C>G | GRCh37 |
| NC_000003.10:g.49135693C>G | NCBI36 |
| NG_008094.1:g.14911G>C | |
| NG_054716.1:g.2683G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4100G>C MANE Select | ENSP00000307156.4:p.Arg1367Pro | |
| ENST00000305544.8:c.4100G>C | ENSP00000307156.4:p.Arg1367Pro | |
| ENST00000418109.5:c.4100G>C | ENSP00000388325.1:p.Arg1367Pro | |
| ENST00000469665.1:n.330G>C | ||
| NM_002292.3:c.4100G>C | NP_002283.3:p.Arg1367Pro | |
| XM_005265127.3:c.4100G>C | XP_005265184.1:p.Arg1367Pro | |
| XM_005265127.4:c.4100G>C | XP_005265184.1:p.Arg1367Pro | |
| NM_002292.4:c.4100G>C MANE Select | NP_002283.3:p.Arg1367Pro |