Linked Data
ClinVar Variation Id:
128726
dbSNP Id:
rs8178990
ExAC:
10:50830171 C / T
gnomAD v2:
10-50830171-C-T
gnomAD v3:
10-49622125-C-T
gnomAD v4:
10-49622125-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49622125C>T , CM000672.2:g.49622125C>T | GRCh38 |
| NC_000010.10:g.50830171C>T , CM000672.1:g.50830171C>T | GRCh37 |
| NC_000010.9:g.50500177C>T | NCBI36 |
| NG_011797.1:g.18031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337653.7:c.727C>T MANE Select | ENSP00000337103.2:p.Leu243Phe | |
| ENST00000337653.6:c.727C>T | ENSP00000337103.2:p.Leu243Phe | |
| ENST00000339797.5:c.373C>T | ENSP00000343486.1:p.Leu125Phe | |
| ENST00000351556.7:c.373C>T | ENSP00000345878.3:p.Leu125Phe | |
| ENST00000395559.6:c.373C>T | ENSP00000378926.2:p.Leu125Phe | |
| ENST00000395562.2:c.481C>T | ENSP00000378929.2:p.Leu161Phe | |
| ENST00000460699.5:n.708C>T | ||
| ENST00000466590.6:c.*458C>T | ENSP00000473443.1:n.*458C>T | |
| NM_001142929.1:c.373C>T | NP_001136401.1:p.Leu125Phe | |
| NM_001142933.1:c.481C>T | NP_001136405.1:p.Leu161Phe | |
| NM_001142934.1:c.373C>T | NP_001136406.1:p.Leu125Phe | |
| NM_020549.4:c.727C>T | NP_065574.3:p.Leu243Phe | |
| NM_020984.3:c.373C>T | NP_066264.3:p.Leu125Phe | |
| NM_020985.3:c.373C>T | NP_066265.3:p.Leu125Phe | |
| NM_020986.3:c.373C>T | NP_066266.3:p.Leu125Phe | |
| NM_001142929.2:c.373C>T | NP_001136401.2:p.Leu125Phe | |
| NM_001142933.2:c.481C>T | NP_001136405.2:p.Leu161Phe | |
| NM_001142934.2:c.373C>T | NP_001136406.2:p.Leu125Phe | |
| NM_020549.5:c.727C>T MANE Select | NP_065574.4:p.Leu243Phe | |
| NM_020984.4:c.373C>T | NP_066264.4:p.Leu125Phe | |
| NM_020985.4:c.373C>T | NP_066265.4:p.Leu125Phe | |
| NM_020986.4:c.373C>T | NP_066266.4:p.Leu125Phe |