Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33438987A>T , CM000682.2:g.33438987A>T | GRCh38 |
| NC_000020.10:g.32026793A>T , CM000682.1:g.32026793A>T | GRCh37 |
| NC_000020.9:g.31490454A>T | NCBI36 |
| NG_011622.1:g.9906T>A , LRG_332:g.9906T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.350T>A MANE Select | ENSP00000217381.2:p.Ile117Asn | |
| ENST00000217381.2:c.350T>A | ENSP00000217381.2:p.Ile117Asn | |
| NM_003098.2:c.350T>A , LRG_332t1:c.350T>A | NP_003089.1:p.Ile117Asn | |
| XM_005260517.1:c.350T>A | XP_005260574.1:p.Ile117Asn | |
| XM_011529007.1:c.350T>A | XP_011527309.1:p.Ile117Asn | |
| XM_011529008.1:c.350T>A | XP_011527310.1:p.Ile117Asn | |
| XR_936612.1:n.583T>A | ||
| XM_024451971.1:c.23T>A | XP_024307739.1:p.Ile8Asn | |
| NM_003098.3:c.350T>A MANE Select | NP_003089.1:p.Ile117Asn |