Linked Data
ClinVar Variation Id:
93383
dbSNP Id:
rs55940366
ExAC:
19:41928655 C / T
gnomAD v2:
19-41928655-C-T
gnomAD v3:
19-41422750-C-T
gnomAD v4:
19-41422750-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422750C>T , CM000681.2:g.41422750C>T | GRCh38 |
| NC_000019.9:g.41928655C>T , CM000681.1:g.41928655C>T | GRCh37 |
| NC_000019.8:g.46620495C>T | NCBI36 |
| NG_013004.1:g.29962C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.975C>T MANE Select | ENSP00000269980.2:p.Leu325= | |
| ENST00000269980.6:c.975C>T | ENSP00000269980.2:p.Leu325= | |
| ENST00000457836.6:c.909C>T | ENSP00000416000.2:p.Leu303= | |
| ENST00000535632.5:n.604C>T | ||
| ENST00000540732.3:c.1077C>T | ENSP00000443246.1:p.Leu359= | |
| ENST00000542943.5:c.888C>T | ENSP00000440345.1:p.Leu296= | |
| ENST00000595085.5:c.922+53C>T | ENSP00000471150.2:n.922+53C>T | |
| NM_000709.3:c.975C>T | NP_000700.1:p.Leu325= | |
| NM_001164783.1:c.972C>T | NP_001158255.1:p.Leu324= | |
| NM_000709.4:c.975C>T MANE Select | NP_000700.1:p.Leu325= | |
| NM_001164783.2:c.972C>T | NP_001158255.1:p.Leu324= |