Linked Data
dbSNP Id:
rs1030011828
gnomAD v2:
11-17574998-C-T
gnomAD v3:
11-17553451-C-T
gnomAD v4:
11-17553451-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553451C>T , CM000673.2:g.17553451C>T | GRCh38 |
| NC_000011.9:g.17574998C>T , CM000673.1:g.17574998C>T | GRCh37 |
| NC_000011.8:g.17531574C>T | NCBI36 |
| NG_033191.1:g.11079C>T | |
| NG_033191.2:g.11079C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.508C>T | ENSP00000382323.2:p.Leu170Phe | |
| ENST00000399397.6:c.472C>T MANE Select | ENSP00000382329.2:p.Leu158Phe | |
| ENST00000399391.6:c.508C>T | ENSP00000382323.2:p.Leu170Phe | |
| ENST00000399397.5:c.472C>T | ENSP00000382329.2:p.Leu158Phe | |
| ENST00000498332.5:n.378C>T | ||
| NM_001277269.1:c.508C>T | NP_001264198.1:p.Leu170Phe | |
| NM_001292063.1:c.472C>T | NP_001278992.1:p.Leu158Phe | |
| NM_001277269.2:c.508C>T | NP_001264198.1:p.Leu170Phe | |
| NM_001292063.2:c.472C>T MANE Select | NP_001278992.1:p.Leu158Phe |