Linked Data
ClinVar Variation Id:
95906
dbSNP Id:
rs398124345
gnomAD v4:
11-45805892-G-T
PubMed:
PMID:24403049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45805892G>T , CM000673.2:g.45805892G>T | GRCh38 |
| NC_000011.9:g.45827443G>T , CM000673.1:g.45827443G>T | GRCh37 |
| NC_000011.8:g.45784019G>T | NCBI36 |
| NG_009875.1:g.6821G>T , LRG_107:g.6821G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.52G>T | ENSP00000432145.2:p.Glu18Ter | |
| ENST00000314134.4:c.91G>T MANE Select | ENSP00000313318.3:p.Glu31Ter | |
| ENST00000314134.3:c.91G>T | ENSP00000313318.3:p.Glu31Ter | |
| ENST00000442528.2:c.52G>T | ENSP00000412408.2:p.Glu18Ter | |
| ENST00000526817.1:c.52G>T | ENSP00000432145.1:p.Glu18Ter | |
| ENST00000530471.1:c.52G>T | ENSP00000432669.1:p.Glu18Ter | |
| NM_001145265.1:c.52G>T | NP_001138737.1:p.Glu18Ter | |
| NM_001145266.1:c.52G>T | NP_001138738.1:p.Glu18Ter | |
| NM_018389.4:c.91G>T , LRG_107t1:c.91G>T | NP_060859.4:p.Glu31Ter | |
| XM_011520203.1:c.91G>T | XP_011518505.1:p.Glu31Ter | |
| XM_011520203.3:c.91G>T | XP_011518505.1:p.Glu31Ter | |
| NM_001145265.2:c.52G>T | NP_001138737.1:p.Glu18Ter | |
| NM_018389.5:c.91G>T MANE Select | NP_060859.4:p.Glu31Ter |