Linked Data
ClinVar Variation Id:
138961
dbSNP Id:
rs34050897
ExAC:
19:39421129 G / A
gnomAD v2:
19-39421129-G-A
gnomAD v3:
19-38930489-G-A
gnomAD v4:
19-38930489-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38930489G>A , CM000681.2:g.38930489G>A | GRCh38 |
| NC_000019.9:g.39421129G>A , CM000681.1:g.39421129G>A | GRCh37 |
| NC_000019.8:g.44112969G>A | NCBI36 |
| NG_029222.1:g.4782G>A | |
| NG_031865.1:g.5408C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221431.11:c.248C>T MANE Select | ENSP00000221431.6:p.Ser83Leu | |
| ENST00000221431.10:c.248C>T | ENSP00000221431.5:p.Ser83Leu | |
| ENST00000430193.7:c.248C>T | ENSP00000406754.3:p.Ser83Leu | |
| ENST00000455102.6:c.248C>T | ENSP00000414954.2:p.Ser83Leu | |
| ENST00000593754.1:c.248C>T | ENSP00000471767.1:p.Ser83Leu | |
| ENST00000598343.5:c.248C>T | ENSP00000472576.1:p.Ser83Leu | |
| ENST00000598598.5:n.275C>T | ||
| ENST00000599996.1:c.476-4189C>T | ||
| ENST00000600042.5:c.248C>T | ENSP00000472847.1:p.Ser83Leu | |
| NM_001145901.1:c.248C>T | NP_001139373.1:p.Ser83Leu | |
| NM_017827.3:c.248C>T | NP_060297.1:p.Ser83Leu | |
| NM_001145901.2:c.248C>T | NP_001139373.1:p.Ser83Leu | |
| NM_017827.4:c.248C>T MANE Select | NP_060297.1:p.Ser83Leu |