Linked Data
ClinVar Variation Id:
938602
ClinVar RCV Id:
RCV001207856
dbSNP Id:
rs1271329821
gnomAD v2:
3-49162335-G-A
gnomAD v4:
3-49124902-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49124902G>A , CM000665.2:g.49124902G>A | GRCh38 |
| NC_000003.11:g.49162335G>A , CM000665.1:g.49162335G>A | GRCh37 |
| NC_000003.10:g.49137339G>A | NCBI36 |
| NG_008094.1:g.13265C>T | |
| NG_054716.1:g.1037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2908C>T MANE Select | ENSP00000307156.4:p.Pro970Ser | |
| ENST00000305544.8:c.2908C>T | ENSP00000307156.4:p.Pro970Ser | |
| ENST00000418109.5:c.2908C>T | ENSP00000388325.1:p.Pro970Ser | |
| ENST00000462930.5:n.315C>T | ||
| ENST00000464891.5:n.641C>T | ||
| ENST00000483057.1:n.508C>T | ||
| ENST00000542580.1:n.223C>T | ||
| NM_002292.3:c.2908C>T | NP_002283.3:p.Pro970Ser | |
| XM_005265127.3:c.2908C>T | XP_005265184.1:p.Pro970Ser | |
| XM_005265127.4:c.2908C>T | XP_005265184.1:p.Pro970Ser | |
| NM_002292.4:c.2908C>T MANE Select | NP_002283.3:p.Pro970Ser |