Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81578005A>T , CM000665.2:g.81578005A>T | GRCh38 |
| NC_000003.11:g.81627156A>T , CM000665.1:g.81627156A>T | GRCh37 |
| NC_000003.10:g.81709846A>T | NCBI36 |
| NG_011810.1:g.188796T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.1538T>A MANE Select | ENSP00000410833.2:p.Ile513Asn | |
| ENST00000429644.6:c.1538T>A | ENSP00000410833.2:p.Ile513Asn | |
| ENST00000489715.1:c.1415T>A | ENSP00000419638.1:p.Ile472Asn | |
| NM_000158.3:c.1538T>A | NP_000149.3:p.Ile513Asn | |
| NM_000158.4:c.1538T>A MANE Select | NP_000149.4:p.Ile513Asn |