Linked Data
ClinVar Variation Id:
178014
dbSNP Id:
rs727504436
ExAC:
11:19209692 T / A
gnomAD v2:
11-19209692-T-A
gnomAD v3:
11-19188145-T-A
gnomAD v4:
11-19188145-T-A
PubMed:
PMID:16352453
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19188145T>A , CM000673.2:g.19188145T>A | GRCh38 |
| NC_000011.9:g.19209692T>A , CM000673.1:g.19209692T>A | GRCh37 |
| NC_000011.8:g.19166268T>A | NCBI36 |
| NG_011932.2:g.27429A>T , LRG_440:g.27429A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265968.9:c.272A>T MANE Select | ENSP00000265968.3:p.Gln91Leu | |
| ENST00000533783.2:c.272A>T | ENSP00000431813.1:p.Gln91Leu | |
| ENST00000647990.1:c.272A>T | ENSP00000496798.1:p.Gln91Leu | |
| ENST00000648719.1:c.113-3100A>T | ENSP00000497633.1:n.113-3100A>T | |
| ENST00000649235.1:c.272A>T | ENSP00000497388.1:p.Gln91Leu | |
| ENST00000649842.1:c.113-1797A>T | ENSP00000497531.1:n.113-1797A>T | |
| ENST00000265968.7:c.272A>T | ENSP00000265968.3:p.Gln91Leu | |
| ENST00000533783.1:c.272A>T | ENSP00000431813.1:p.Gln91Leu | |
| NM_003476.4:c.272A>T | NP_003467.1:p.Gln91Leu | |
| XM_024448698.1:c.113-1797A>T | XP_024304466.1:n.113-1797A>T | |
| NM_001369404.1:c.113-1797A>T | NP_001356333.1:n.113-1797A>T | |
| NM_003476.5:c.272A>T MANE Select | NP_003467.1:p.Gln91Leu |