Linked Data
gnomAD v4:
10-94780655-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780655T>A , CM000672.2:g.94780655T>A | GRCh38 |
| NC_000010.10:g.96540412T>A , CM000672.1:g.96540412T>A | GRCh37 |
| NC_000010.9:g.96530402T>A | NCBI36 |
| NG_008384.2:g.22950T>A | |
| NG_008384.3:g.22975T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.638T>A MANE Select | ENSP00000360372.3:p.Ile213Asn | |
| ENST00000645461.1:n.1691T>A | ||
| ENST00000371321.7:c.638T>A | ENSP00000360372.3:p.Ile213Asn | |
| ENST00000464755.1:c.1401T>A | ENSP00000483243.1:n.1401T>A | |
| NM_000769.2:c.638T>A | NP_000760.1:p.Ile213Asn | |
| NM_000769.4:c.638T>A MANE Select | NP_000760.1:p.Ile213Asn |