Linked Data
ClinVar Variation Id:
8375
dbSNP Id:
rs121909355
ExAC:
8:97157401 T / A
gnomAD v2:
8-97157401-T-A
gnomAD v3:
8-96145173-T-A
gnomAD v4:
8-96145173-T-A
PubMed:
PMID:19129173
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145173T>A , CM000670.2:g.96145173T>A | GRCh38 |
| NC_000008.10:g.97157401T>A , CM000670.1:g.97157401T>A | GRCh37 |
| NC_000008.9:g.97226577T>A | NCBI36 |
| NG_008981.1:g.20620A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287020.7:c.758A>T MANE Select | ENSP00000287020.4:p.Gln253Leu | |
| ENST00000287020.6:c.758A>T | ENSP00000287020.4:p.Gln253Leu | |
| ENST00000620978.1:c.707-11A>T | ENSP00000480170.1:n.707-11A>T | |
| ENST00000621429.1:c.758A>T | ENSP00000483711.1:p.Gln253Leu | |
| NM_001001557.2:c.758A>T | NP_001001557.1:p.Gln253Leu | |
| XM_011517030.1:c.359A>T | XP_011515332.1:p.Gln120Leu | |
| NM_001001557.3:c.758A>T | NP_001001557.1:p.Gln253Leu | |
| NM_001001557.4:c.758A>T MANE Select | NP_001001557.1:p.Gln253Leu |