Linked Data
ClinVar Variation Id:
2044087
ClinVar RCV Id:
RCV002903419
dbSNP Id:
rs139451340
gnomAD v4:
13-42581250-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42581250C>T , CM000675.2:g.42581250C>T | GRCh38 |
| NC_000013.10:g.43155386C>T , CM000675.1:g.43155386C>T | GRCh37 |
| NC_000013.9:g.42053386C>T | NCBI36 |
| NG_008990.1:g.23515C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398795.7:c.344C>T MANE Select | ENSP00000381775.3:p.Ser115Leu | |
| ENST00000239849.8:c.203C>T | ENSP00000239849.7:p.Ser68Leu | |
| ENST00000358545.6:c.125C>T | ENSP00000351347.2:p.Ser42Leu | |
| ENST00000398795.6:c.344C>T | ENSP00000381775.3:p.Ser115Leu | |
| ENST00000405262.6:c.125C>T | ENSP00000384042.2:p.Ser42Leu | |
| ENST00000544862.5:c.125C>T | ENSP00000444913.1:p.Ser42Leu | |
| NM_003701.3:c.344C>T | NP_003692.1:p.Ser115Leu | |
| NM_033012.3:c.125C>T | NP_143026.1:p.Ser42Leu | |
| XM_011535280.1:c.125C>T | XP_011533582.1:p.Ser42Leu | |
| XM_011535280.2:c.125C>T | XP_011533582.1:p.Ser42Leu | |
| XM_017020802.1:c.182C>T | XP_016876291.1:p.Ser61Leu | |
| XM_017020803.2:c.125C>T | XP_016876292.1:p.Ser42Leu | |
| NM_003701.4:c.344C>T MANE Select | NP_003692.1:p.Ser115Leu | |
| NM_033012.4:c.125C>T | NP_143026.1:p.Ser42Leu |