Linked Data
ClinVar Variation Id:
452136
ClinVar RCV Id:
RCV000520449
dbSNP Id:
rs1227931818
gnomAD v2:
3-119013780-T-C
gnomAD v4:
3-119294933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119294933T>C , CM000665.2:g.119294933T>C | GRCh38 |
| NC_000003.11:g.119013780T>C , CM000665.1:g.119013780T>C | GRCh37 |
| NC_000003.10:g.120496470T>C | NCBI36 |
| NG_007665.2:g.5561T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.29T>C MANE Select | ENSP00000264245.4:p.Leu10Pro | |
| ENST00000264245.8:c.29T>C | ENSP00000264245.4:p.Leu10Pro | |
| NM_020754.3:c.29T>C | NP_065805.2:p.Leu10Pro | |
| XM_006713714.2:c.29T>C | XP_006713777.1:p.Leu10Pro | |
| XM_006713714.3:c.29T>C | XP_006713777.1:p.Leu10Pro | |
| XM_017006955.1:c.-319T>C | XP_016862444.1:n.-319T>C | |
| NM_020754.4:c.29T>C MANE Select | NP_065805.2:p.Leu10Pro |