Linked Data
ClinVar Variation Id:
258630
dbSNP Id:
rs529668402
ExAC:
9:129456109 C / T
gnomAD v2:
9-129456109-C-T
gnomAD v3:
9-126693830-C-T
gnomAD v4:
9-126693830-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126693830C>T , CM000671.2:g.126693830C>T | GRCh38 |
| NC_000009.11:g.129456109C>T , CM000671.1:g.129456109C>T | GRCh37 |
| NC_000009.10:g.128495930C>T | NCBI36 |
| NG_017039.1:g.84388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.904C>T | ENSP00000347684.5:p.Gln302Ter | |
| ENST00000373474.9:c.886+18C>T MANE Select | ENSP00000362573.3:n.886+18C>T | |
| ENST00000526117.6:c.886+18C>T | ENSP00000436930.1:n.886+18C>T | |
| ENST00000355497.9:c.904C>T | ENSP00000347684.5:p.Gln302Ter | |
| ENST00000373474.8:c.886+18C>T | ENSP00000362573.3:n.886+18C>T | |
| ENST00000526117.5:c.886+18C>T | ENSP00000436930.1:n.886+18C>T | |
| ENST00000561065.1:c.835C>T | ENSP00000453580.1:p.Gln279Ter | |
| NM_001174146.1:c.904C>T | NP_001167617.1:p.Gln302Ter | |
| NM_001174147.1:c.886+18C>T | NP_001167618.1:n.886+18C>T | |
| NM_002316.3:c.886+18C>T | NP_002307.2:n.886+18C>T | |
| NM_001174146.2:c.904C>T | NP_001167617.1:p.Gln302Ter | |
| NM_001174147.2:c.886+18C>T MANE Select | NP_001167618.1:n.886+18C>T | |
| NM_002316.4:c.886+18C>T | NP_002307.2:n.886+18C>T |