Linked Data
ClinVar Variation Id:
158128
dbSNP Id:
rs61736349
ExAC:
14:91804487 G / A
gnomAD:
14:91804487 G / A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91338143G>A , CM000676.2:g.91338143G>A | GRCh38 |
| NC_000014.8:g.91804487G>A , CM000676.1:g.91804487G>A | GRCh37 |
| NC_000014.7:g.90874240G>A | NCBI36 |
| NG_033118.1:g.84702C>T | |
| NG_033118.2:g.84702C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389857.11:c.912C>T MANE Select | ENSP00000374507.6:p.Asp304= | |
| ENST00000389857.10:c.912C>T | ENSP00000374507.6:p.Asp304= | |
| ENST00000554051.1:n.389C>T | ||
| NM_001080414.3:c.912C>T | NP_001073883.2:p.Asp304= | |
| XM_005267691.3:c.912C>T | XP_005267748.1:p.Asp304= | |
| XM_011536796.1:c.804C>T | XP_011535098.1:p.Asp268= | |
| XR_429316.2:n.1040C>T | ||
| XR_943459.1:n.1040C>T | ||
| XM_005267691.5:c.912C>T | XP_005267748.1:p.Asp304= | |
| XM_011536796.2:c.804C>T | XP_011535098.1:p.Asp268= | |
| XM_017021335.2:c.912C>T | XP_016876824.1:p.Asp304= | |
| XM_017021337.2:c.912C>T | XP_016876826.1:p.Asp304= | |
| XR_429316.4:n.1038C>T | ||
| NM_001080414.4:c.912C>T MANE Select | NP_001073883.2:p.Asp304= |