Linked Data
dbSNP Id:
rs757794260
ExAC:
11:17574968 G / T
gnomAD v2:
11-17574968-G-T
gnomAD v3:
11-17553421-G-T
gnomAD v4:
11-17553421-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553421G>T , CM000673.2:g.17553421G>T | GRCh38 |
| NC_000011.9:g.17574968G>T , CM000673.1:g.17574968G>T | GRCh37 |
| NC_000011.8:g.17531544G>T | NCBI36 |
| NG_033191.1:g.11049G>T | |
| NG_033191.2:g.11049G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.478G>T | ENSP00000382323.2:p.Val160Leu | |
| ENST00000399397.6:c.442G>T MANE Select | ENSP00000382329.2:p.Val148Leu | |
| ENST00000399391.6:c.478G>T | ENSP00000382323.2:p.Val160Leu | |
| ENST00000399397.5:c.442G>T | ENSP00000382329.2:p.Val148Leu | |
| ENST00000428619.1:c.259G>T | ENSP00000399057.2:p.Val87Leu | |
| ENST00000498332.5:n.348G>T | ||
| NM_001277269.1:c.478G>T | NP_001264198.1:p.Val160Leu | |
| NM_001292063.1:c.442G>T | NP_001278992.1:p.Val148Leu | |
| NM_001277269.2:c.478G>T | NP_001264198.1:p.Val160Leu | |
| NM_001292063.2:c.442G>T MANE Select | NP_001278992.1:p.Val148Leu |