Linked Data
ClinVar Variation Id:
502314
dbSNP Id:
rs376944331
ExAC:
7:66103970 C / A
gnomAD v2:
7-66103970-C-A
gnomAD v3:
7-66638983-C-A
gnomAD v4:
7-66638983-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66638983C>A , CM000669.2:g.66638983C>A | GRCh38 |
| NC_000007.13:g.66103970C>A , CM000669.1:g.66103970C>A | GRCh37 |
| NC_000007.12:g.65741405C>A | NCBI36 |
| NG_028110.1:g.15103C>A | |
| NG_028110.2:g.15103C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.581C>A | ENSP00000275532.4:p.Ser194Ter | |
| ENST00000449064.6:c.505+54C>A | ||
| ENST00000503687.2:c.397+54C>A | ENSP00000421074.1:n.397+54C>A | |
| ENST00000638524.1:c.446C>A | ||
| ENST00000638540.1:c.425C>A | ||
| ENST00000639828.2:c.621C>A MANE Select | ENSP00000492240.1:p.Leu207= | |
| ENST00000639879.1:c.*484C>A | ENSP00000492161.1:n.*484C>A | |
| ENST00000640234.1:c.437+54C>A | ||
| ENST00000640385.1:c.621C>A | ENSP00000491193.1:p.Leu207= | |
| ENST00000640601.1:c.128C>A | ||
| ENST00000640851.1:c.567+54C>A | ENSP00000492577.1:n.567+54C>A | |
| ENST00000275532.7:c.621C>A | ENSP00000275532.3:p.Leu207= | |
| ENST00000443322.1:c.621C>A | ENSP00000411624.1:p.Leu207= | |
| ENST00000503687.1:c.397+54C>A | ENSP00000421074.1:n.397+54C>A | |
| NM_001167961.2:c.621C>A | NP_001161433.1:p.Leu207= | |
| NM_153033.4:c.621C>A | NP_694578.1:p.Leu207= | |
| NM_153033.5:c.621C>A MANE Select | NP_694578.1:p.Leu207= |