Linked Data
ClinVar Variation Id:
367264
dbSNP Id:
rs184207177
ExAC:
9:75450982 C / T
gnomAD v2:
9-75450982-C-T
gnomAD v3:
9-72836066-C-T
gnomAD v4:
9-72836066-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72836066C>T , CM000671.2:g.72836066C>T | GRCh38 |
| NC_000009.11:g.75450982C>T , CM000671.1:g.75450982C>T | GRCh37 |
| NC_000009.10:g.74640802C>T | NCBI36 |
| NG_008213.1:g.319266C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.*93C>T MANE Select | ENSP00000297784.6:n.*93C>T | |
| ENST00000645053.1:c.*361C>T | ENSP00000493838.1:n.*361C>T | |
| ENST00000645208.2:c.*93C>T | ENSP00000494684.1:n.*93C>T | |
| ENST00000651183.1:c.1886C>T | ENSP00000498723.1:p.Thr629Ile | |
| ENST00000297784.9:c.*93C>T | ENSP00000297784.5:n.*93C>T | |
| ENST00000340019.4:c.*93C>T | ENSP00000341433.3:n.*93C>T | |
| ENST00000486417.5:n.1274C>T | ||
| NM_138691.2:c.*93C>T | NP_619636.2:n.*93C>T | |
| XM_011518213.1:c.2964C>T | XP_011516515.1:n.2964C>T | |
| XM_017014256.1:c.*93C>T | XP_016869745.1:n.*93C>T | |
| NM_138691.3:c.*93C>T MANE Select | NP_619636.2:n.*93C>T |