Linked Data
MyVariant Identifiers:
chr9:g.132581146G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818867G>A , CM000671.2:g.129818867G>A | GRCh38 |
| NC_000009.11:g.132581146G>A , CM000671.1:g.132581146G>A | GRCh37 |
| NC_000009.10:g.131620967G>A | NCBI36 |
| NG_008049.1:g.10296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.498C>T MANE Select | ENSP00000345719.4:p.Ile166= | |
| ENST00000651202.1:c.594C>T | ENSP00000498222.1:p.Ile198= | |
| ENST00000351698.4:c.498C>T | ENSP00000345719.4:p.Ile166= | |
| ENST00000473604.2:n.608C>T | ||
| NM_000113.2:c.498C>T | NP_000104.1:p.Ile166= | |
| XR_929731.1:n.658C>T | ||
| XR_929731.3:n.526C>T | ||
| NM_000113.3:c.498C>T MANE Select | NP_000104.1:p.Ile166= |