Linked Data
ClinVar Variation Id:
280129
ClinVar RCV Id:
RCV001261563
dbSNP Id:
rs886041401
gnomAD v4:
4-80072427-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80072427A>G , CM000666.2:g.80072427A>G | GRCh38 |
| NC_000004.11:g.80993581A>G , CM000666.1:g.80993581A>G | GRCh37 |
| NC_000004.10:g.81212605A>G | NCBI36 |
| NG_015987.1:g.5897T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403729.7:c.134T>C MANE Select | ENSP00000385575.2:p.Leu45Pro | |
| ENST00000679571.1:c.-80+282T>C | ENSP00000506307.1:n.-80+282T>C | |
| ENST00000680913.1:c.134T>C | ENSP00000505640.1:p.Leu45Pro | |
| ENST00000681115.1:c.134T>C | ENSP00000505618.1:p.Leu45Pro | |
| ENST00000681710.1:c.-80+282T>C | ENSP00000505865.1:n.-80+282T>C | |
| ENST00000307333.7:c.134T>C | ENSP00000306185.6:p.Leu45Pro | |
| ENST00000346652.10:c.134T>C | ENSP00000314883.6:p.Leu45Pro | |
| ENST00000403729.6:c.134T>C | ENSP00000385575.2:p.Leu45Pro | |
| ENST00000404191.5:c.-79-773T>C | ENSP00000384028.1:n.-79-773T>C | |
| ENST00000506286.1:n.630-773T>C | ||
| ENST00000514959.1:n.248+6926T>C | ||
| NM_001145794.1:c.134T>C | NP_001139266.1:p.Leu45Pro | |
| NM_001286780.1:c.-79-773T>C | NP_001273709.1:n.-79-773T>C | |
| NM_001286781.1:c.-80+282T>C | NP_001273710.1:n.-80+282T>C | |
| NM_058172.5:c.134T>C | NP_477520.2:p.Leu45Pro | |
| XM_011531587.1:c.-79-773T>C | XP_011529889.1:n.-79-773T>C | |
| XM_011531587.3:c.-79-773T>C | XP_011529889.1:n.-79-773T>C | |
| NM_058172.6:c.134T>C MANE Select | NP_477520.2:p.Leu45Pro | |
| NM_001286780.2:c.-79-773T>C | NP_001273709.1:n.-79-773T>C | |
| NM_001286781.2:c.-80+282T>C | NP_001273710.1:n.-80+282T>C | |
| NM_001145794.2:c.134T>C | NP_001139266.1:p.Leu45Pro |