Linked Data
dbSNP Id:
rs368074043
ExAC:
14:21897214 A / T
gnomAD v2:
14-21897214-A-T
gnomAD v3:
14-21429055-A-T
gnomAD v4:
14-21429055-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21429055A>T , CM000676.2:g.21429055A>T | GRCh38 |
| NC_000014.8:g.21897214A>T , CM000676.1:g.21897214A>T | GRCh37 |
| NC_000014.7:g.20967054A>T | NCBI36 |
| NG_021249.1:g.13244T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.287T>A | ENSP00000406288.3:p.Leu96Gln | |
| ENST00000553651.2:n.2930T>A | ||
| ENST00000555962.6:c.-111+2756T>A | ENSP00000495174.1:n.-111+2756T>A | |
| ENST00000557364.6:c.1124T>A | ENSP00000451601.1:p.Leu375Gln | |
| ENST00000642518.1:c.287T>A | ENSP00000496722.1:p.Leu96Gln | |
| ENST00000643048.1:n.1419T>A | ||
| ENST00000643469.1:c.1124T>A | ENSP00000495070.1:p.Leu375Gln | |
| ENST00000645140.1:c.1036T>A | ||
| ENST00000645929.1:c.287T>A | ENSP00000494402.1:p.Leu96Gln | |
| ENST00000646063.1:c.1211T>A | ENSP00000496565.1:p.Leu404Gln | |
| ENST00000646340.1:c.1130T>A | ENSP00000496730.1:p.Leu377Gln | |
| ENST00000646647.2:c.1124T>A MANE Select | ENSP00000495240.1:p.Leu375Gln | |
| ENST00000399982.6:c.1124T>A | ENSP00000382863.2:p.Leu375Gln | |
| ENST00000430710.7:c.287T>A | ENSP00000406288.3:p.Leu96Gln | |
| ENST00000555962.5:n.150+2756T>A | ||
| ENST00000557364.5:c.1124T>A | ENSP00000451601.1:p.Leu375Gln | |
| NM_001170629.1:c.1124T>A | NP_001164100.1:p.Leu375Gln | |
| NM_020920.3:c.287T>A | NP_065971.2:p.Leu96Gln | |
| NM_001170629.2:c.1124T>A MANE Select | NP_001164100.1:p.Leu375Gln | |
| NM_020920.4:c.287T>A | NP_065971.2:p.Leu96Gln |