Linked Data
ClinVar Variation Id:
279764
dbSNP Id:
rs192989929
ExAC:
14:21897467 G / A
gnomAD v2:
14-21897467-G-A
gnomAD v3:
14-21429308-G-A
gnomAD v4:
14-21429308-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21429308G>A , CM000676.2:g.21429308G>A | GRCh38 |
| NC_000014.8:g.21897467G>A , CM000676.1:g.21897467G>A | GRCh37 |
| NC_000014.7:g.20967307G>A | NCBI36 |
| NG_021249.1:g.12991C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.34C>T | ENSP00000406288.3:p.Leu12Phe | |
| ENST00000553651.2:n.2677C>T | ||
| ENST00000555962.6:c.-111+2503C>T | ENSP00000495174.1:n.-111+2503C>T | |
| ENST00000557364.6:c.871C>T | ENSP00000451601.1:p.Leu291Phe | |
| ENST00000642518.1:c.34C>T | ENSP00000496722.1:p.Leu12Phe | |
| ENST00000643048.1:n.1166C>T | ||
| ENST00000643469.1:c.871C>T | ENSP00000495070.1:p.Leu291Phe | |
| ENST00000645140.1:c.783C>T | ||
| ENST00000645929.1:c.34C>T | ENSP00000494402.1:p.Leu12Phe | |
| ENST00000646063.1:c.958C>T | ENSP00000496565.1:p.Leu320Phe | |
| ENST00000646340.1:c.877C>T | ENSP00000496730.1:p.Leu293Phe | |
| ENST00000646647.2:c.871C>T MANE Select | ENSP00000495240.1:p.Leu291Phe | |
| ENST00000399982.6:c.871C>T | ENSP00000382863.2:p.Leu291Phe | |
| ENST00000430710.7:c.34C>T | ENSP00000406288.3:p.Leu12Phe | |
| ENST00000553283.1:c.124C>T | ENSP00000450860.1:p.Leu42Phe | |
| ENST00000555962.5:n.150+2503C>T | ||
| ENST00000557364.5:c.871C>T | ENSP00000451601.1:p.Leu291Phe | |
| NM_001170629.1:c.871C>T | NP_001164100.1:p.Leu291Phe | |
| NM_020920.3:c.34C>T | NP_065971.2:p.Leu12Phe | |
| NM_001170629.2:c.871C>T MANE Select | NP_001164100.1:p.Leu291Phe | |
| NM_020920.4:c.34C>T | NP_065971.2:p.Leu12Phe |