Linked Data
dbSNP Id:
rs682632
ExAC:
9:27183463 A / T
gnomAD v2:
9-27183463-A-T
gnomAD v3:
9-27183465-A-T
gnomAD v4:
9-27183465-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27183465A>T , CM000671.2:g.27183465A>T | GRCh38 |
| NC_000009.11:g.27183463A>T , CM000671.1:g.27183463A>T | GRCh37 |
| NC_000009.10:g.27173463A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380036.10:c.1037A>T MANE Select | ENSP00000369375.4:p.Gln346Leu | |
| ENST00000380036.8:c.1037A>T | ENSP00000369375.4:p.Gln346Leu | |
| ENST00000406359.8:c.908A>T | ENSP00000383977.4:p.Gln303Leu | |
| ENST00000519080.1:c.467A>T | ENSP00000428337.1:p.Gln156Leu | |
| ENST00000519097.5:c.596A>T | ENSP00000430686.1:p.Gln199Leu | |
| ENST00000615002.4:c.908A>T | ENSP00000480251.1:p.Gln303Leu | |
| XM_005251561.1:c.1037A>T | XP_005251618.1:p.Gln346Leu | |
| XM_005251563.1:c.908A>T | XP_005251620.1:p.Gln303Leu | |
| XM_005251561.2:c.1037A>T | XP_005251618.1:p.Gln346Leu | |
| XM_005251563.2:c.908A>T | XP_005251620.1:p.Gln303Leu | |
| NM_000459.5:c.1037A>T MANE Select | NP_000450.3:p.Gln346Leu | |
| NM_001375475.1:c.1037A>T | NP_001362404.1:p.Gln346Leu | |
| NM_001375476.1:c.908A>T | NP_001362405.1:p.Gln303Leu |