Linked Data
dbSNP Id:
rs770883670
gnomAD v3:
7-66638962-C-T
gnomAD v4:
7-66638962-C-T
MyVariant Identifiers:
chr7:g.66103949C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66638962C>T , CM000669.2:g.66638962C>T | GRCh38 |
| NC_000007.13:g.66103949C>T , CM000669.1:g.66103949C>T | GRCh37 |
| NC_000007.12:g.65741384C>T | NCBI36 |
| NG_028110.1:g.15082C>T | |
| NG_028110.2:g.15082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.560C>T | ENSP00000275532.4:p.Pro187Leu | |
| ENST00000449064.6:c.505+33C>T | ||
| ENST00000503687.2:c.397+33C>T | ENSP00000421074.1:n.397+33C>T | |
| ENST00000638524.1:c.425C>T | ||
| ENST00000638540.1:c.404C>T | ||
| ENST00000639828.2:c.600C>T MANE Select | ENSP00000492240.1:p.Thr200= | |
| ENST00000639879.1:c.*463C>T | ENSP00000492161.1:n.*463C>T | |
| ENST00000640234.1:c.437+33C>T | ||
| ENST00000640385.1:c.600C>T | ENSP00000491193.1:p.Thr200= | |
| ENST00000640601.1:c.107C>T | ||
| ENST00000640851.1:c.567+33C>T | ENSP00000492577.1:n.567+33C>T | |
| ENST00000275532.7:c.600C>T | ENSP00000275532.3:p.Thr200= | |
| ENST00000443322.1:c.600C>T | ENSP00000411624.1:p.Thr200= | |
| ENST00000503687.1:c.397+33C>T | ENSP00000421074.1:n.397+33C>T | |
| NM_001167961.2:c.600C>T | NP_001161433.1:p.Thr200= | |
| NM_153033.4:c.600C>T | NP_694578.1:p.Thr200= | |
| NM_153033.5:c.600C>T MANE Select | NP_694578.1:p.Thr200= |