Linked Data
ClinVar Variation Id:
1386685
ClinVar RCV Id:
RCV001875368
dbSNP Id:
rs1029156575
gnomAD v4:
3-49122779-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49122779C>G , CM000665.2:g.49122779C>G | GRCh38 |
| NC_000003.11:g.49160212C>G , CM000665.1:g.49160212C>G | GRCh37 |
| NC_000003.10:g.49135216C>G | NCBI36 |
| NG_008094.1:g.15388G>C | |
| NG_054716.1:g.3160G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4498G>C MANE Select | ENSP00000307156.4:p.Ala1500Pro | |
| ENST00000305544.8:c.4498G>C | ENSP00000307156.4:p.Ala1500Pro | |
| ENST00000418109.5:c.4498G>C | ENSP00000388325.1:p.Ala1500Pro | |
| ENST00000469665.1:n.807G>C | ||
| NM_002292.3:c.4498G>C | NP_002283.3:p.Ala1500Pro | |
| XM_005265127.3:c.4498G>C | XP_005265184.1:p.Ala1500Pro | |
| XM_005265127.4:c.4498G>C | XP_005265184.1:p.Ala1500Pro | |
| NM_002292.4:c.4498G>C MANE Select | NP_002283.3:p.Ala1500Pro |