Linked Data
dbSNP Id:
rs771607670
ExAC:
16:67976833 C / T
gnomAD v2:
16-67976833-C-T
gnomAD v4:
16-67942930-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942930C>T , CM000678.2:g.67942930C>T | GRCh38 |
| NC_000016.9:g.67976833C>T , CM000678.1:g.67976833C>T | GRCh37 |
| NC_000016.8:g.66534334C>T | NCBI36 |
| NG_009778.1:g.6183G>A | |
| NG_033098.1:g.30765G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.358G>A MANE Select | ENSP00000264005.5:p.Val120Ile | |
| ENST00000264005.9:c.358G>A | ENSP00000264005.5:p.Val120Ile | |
| ENST00000570369.5:c.86G>A | ||
| ENST00000570980.1:c.142G>A | ENSP00000464651.1:p.Val48Ile | |
| ENST00000573538.5:c.1G>A | ENSP00000463220.1:p.Val1Ile | |
| ENST00000575277.1:n.136G>A | ||
| ENST00000575467.5:c.*53G>A | ENSP00000460653.1:n.*53G>A | |
| NM_000229.1:c.358G>A | NP_000220.1:p.Val120Ile | |
| NM_000229.2:c.358G>A MANE Select | NP_000220.1:p.Val120Ile |