Linked Data
ClinVar Variation Id:
384763
dbSNP Id:
rs141435327
ExAC:
16:69369234 C / T
gnomAD v2:
16-69369234-C-T
gnomAD v3:
16-69335331-C-T
gnomAD v4:
16-69335331-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69335331C>T , CM000678.2:g.69335331C>T | GRCh38 |
| NC_000016.9:g.69369234C>T , CM000678.1:g.69369234C>T | GRCh37 |
| NC_000016.8:g.67926735C>T | NCBI36 |
| NG_009013.1:g.9293G>A | |
| NG_033043.1:g.265G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306875.10:c.603G>A MANE Select | ENSP00000305459.6:p.Val201= | |
| ENST00000306875.8:c.603G>A | ENSP00000305459.4:p.Val201= | |
| ENST00000562081.2:c.603G>A | ENSP00000455954.1:p.Val201= | |
| ENST00000562595.5:c.544G>A | ||
| ENST00000563634.1:c.228G>A | ENSP00000454500.1:p.Val76= | |
| ENST00000564737.1:c.692G>A | ||
| ENST00000567493.1:c.183G>A | ENSP00000464395.1:p.Val61= | |
| ENST00000570293.5:c.542G>A | ENSP00000464417.1:n.542G>A | |
| NM_032382.4:c.603G>A | NP_115758.3:p.Val201= | |
| NM_001374871.1:c.603G>A | NP_001361800.1:p.Val201= | |
| NM_032382.5:c.603G>A MANE Select | NP_115758.3:p.Val201= | |
| NM_001379261.1:c.603G>A | NP_001366190.1:p.Val201= | |
| NM_001379262.1:c.603G>A | NP_001366191.1:p.Val201= | |
| NM_001379263.1:c.603G>A | NP_001366192.1:p.Val201= | |
| NM_001379264.1:c.603G>A | NP_001366193.1:p.Val201= | |
| NM_001379265.1:c.603G>A | NP_001366194.1:p.Val201= | |
| NM_001379266.1:c.603G>A | NP_001366195.1:p.Val201= |