Linked Data
ClinVar Variation Id:
1683587
ClinVar RCV Id:
RCV002244108
dbSNP Id:
rs1759661333
gnomAD v4:
5-35857018-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35857018T>C , CM000667.2:g.35857018T>C | GRCh38 |
| NC_000005.9:g.35857120T>C , CM000667.1:g.35857120T>C | GRCh37 |
| NC_000005.8:g.35892877T>C | NCBI36 |
| NG_009567.1:g.5130T>C , LRG_74:g.5130T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.41T>C MANE Select | ENSP00000306157.3:p.Leu14Ser | |
| ENST00000303115.7:c.41T>C | ENSP00000306157.3:p.Leu14Ser | |
| ENST00000506850.5:c.41T>C | ENSP00000421207.1:p.Leu14Ser | |
| ENST00000508941.5:c.41T>C | ENSP00000426426.1:p.Leu14Ser | |
| ENST00000511031.1:n.217-3834T>C | ||
| ENST00000511982.1:c.41T>C | ENSP00000425309.1:p.Leu14Ser | |
| ENST00000514217.5:c.41T>C | ENSP00000427688.1:p.Leu14Ser | |
| ENST00000515665.1:c.41T>C | ENSP00000425538.1:p.Leu14Ser | |
| NM_002185.3:c.41T>C | NP_002176.2:p.Leu14Ser | |
| NR_120485.1:n.144T>C | ||
| XM_005248299.2:c.41T>C | XP_005248356.1:p.Leu14Ser | |
| XM_005248300.1:c.41T>C | XP_005248357.1:p.Leu14Ser | |
| XM_011514037.1:c.41T>C | XP_011512339.1:p.Leu14Ser | |
| NM_002185.4:c.41T>C | NP_002176.2:p.Leu14Ser | |
| NR_120485.2:n.170T>C | ||
| XM_005248299.4:c.41T>C | XP_005248356.1:p.Leu14Ser | |
| XR_001742635.1:n.1533+1849A>G | ||
| NM_002185.5:c.41T>C MANE Select | NP_002176.2:p.Leu14Ser | |
| NR_120485.3:n.128T>C |