Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146116A>T , CM000670.2:g.38146116A>T | GRCh38 |
| NC_000008.10:g.38003634A>T , CM000670.1:g.38003634A>T | GRCh37 |
| NC_000008.9:g.38122791A>T | NCBI36 |
| NG_011827.1:g.9967T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.497T>A MANE Select | ENSP00000276449.3:p.Ile166Asn | |
| ENST00000276449.8:c.497T>A | ENSP00000276449.3:p.Ile166Asn | |
| ENST00000520114.1:n.984T>A | ||
| ENST00000522050.1:c.433T>A | ||
| NM_000349.2:c.497T>A | NP_000340.2:p.Ile166Asn | |
| XM_006716392.1:c.497T>A | XP_006716455.1:p.Ile166Asn | |
| NM_000349.3:c.497T>A MANE Select | NP_000340.2:p.Ile166Asn |