Linked Data
MyVariant Identifiers:
chr9:g.132581059C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818780C>A , CM000671.2:g.129818780C>A | GRCh38 |
| NC_000009.11:g.132581059C>A , CM000671.1:g.132581059C>A | GRCh37 |
| NC_000009.10:g.131620880C>A | NCBI36 |
| NG_008049.1:g.10383G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.585G>T MANE Select | ENSP00000345719.4:p.Gly195= | |
| ENST00000651202.1:c.681G>T | ENSP00000498222.1:p.Gly227= | |
| ENST00000351698.4:c.585G>T | ENSP00000345719.4:p.Gly195= | |
| ENST00000473604.2:n.695G>T | ||
| ENST00000474192.1:n.2G>T | ||
| NM_000113.2:c.585G>T | NP_000104.1:p.Gly195= | |
| XR_929731.1:n.745G>T | ||
| XR_929731.3:n.613G>T | ||
| NM_000113.3:c.585G>T MANE Select | NP_000104.1:p.Gly195= |