Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98578042A>T , CM000671.2:g.98578042A>T | GRCh38 |
| NC_000009.11:g.101340324A>T , CM000671.1:g.101340324A>T | GRCh37 |
| NC_000009.10:g.100380145A>T | NCBI36 |
| NG_016426.1:g.136156T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259455.4:c.352T>A MANE Select | ENSP00000259455.2:p.Tyr118Asn | |
| ENST00000637410.1:n.130T>A | ||
| ENST00000637717.1:c.-33T>A | ENSP00000490789.1:n.-33T>A | |
| ENST00000259455.3:c.352T>A | ENSP00000259455.2:p.Tyr118Asn | |
| ENST00000634227.1:n.126T>A | ||
| NM_005458.7:c.352T>A | NP_005449.5:p.Tyr118Asn | |
| NM_005458.8:c.352T>A MANE Select | NP_005449.5:p.Tyr118Asn |