Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189010790A>T , CM000664.2:g.189010790A>T | GRCh38 |
| NC_000002.11:g.189875516A>T , CM000664.1:g.189875516A>T | GRCh37 |
| NC_000002.10:g.189583761A>T | NCBI36 |
| NG_007404.1:g.41418A>T , LRG_3:g.41418A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.4055A>T | ENSP00000415346.2:p.Asn1352Ile | |
| ENST00000304636.9:c.4154A>T MANE Select | ENSP00000304408.4:p.Asn1385Ile | |
| ENST00000304636.7:c.4154A>T | ENSP00000304408.3:p.Asn1385Ile | |
| ENST00000317840.9:c.3245A>T | ENSP00000315243.6:p.Asn1082Ile | |
| ENST00000487010.1:n.1533A>T | ||
| NM_000090.3:c.4154A>T , LRG_3t1:c.4154A>T | NP_000081.1:p.Asn1385Ile | |
| NM_000090.4:c.4154A>T MANE Select | NP_000081.2:p.Asn1385Ile |