Linked Data
dbSNP Id:
rs201723068
ExAC:
10:96535151 C / A
gnomAD v2:
10-96535151-C-A
gnomAD v3:
10-94775394-C-A
gnomAD v4:
10-94775394-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775394C>A , CM000672.2:g.94775394C>A | GRCh38 |
| NC_000010.10:g.96535151C>A , CM000672.1:g.96535151C>A | GRCh37 |
| NC_000010.9:g.96525141C>A | NCBI36 |
| NG_008384.2:g.17689C>A | |
| NG_008384.3:g.17714C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.336C>A MANE Select | ENSP00000360372.3:p.Ile112= | |
| ENST00000645461.1:n.1389C>A | ||
| ENST00000371321.7:c.336C>A | ENSP00000360372.3:p.Ile112= | |
| ENST00000464755.1:c.1099C>A | ENSP00000483243.1:n.1099C>A | |
| ENST00000480405.2:c.336C>A | ENSP00000483847.1:p.Ile112= | |
| NM_000769.2:c.336C>A | NP_000760.1:p.Ile112= | |
| NM_000769.4:c.336C>A MANE Select | NP_000760.1:p.Ile112= |